SNP Links for Protein (Select 296080761) - SNP

Select item 14873053731.

rs1487305373 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGGC>- [Show Flanks]
Chromosome:: 3:46898851 (GRCh38)
3:46940341 (GRCh37)
Canonical SPDI:: NC_000003.12:46898848:GCCGGC:GC
Gene:: PTH1R (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.46898851_46898854del, NC_000003.11:g.46940341_46940344del, NG_008864.1:g.26106_26109del, NM_000316.3:c.828_831del, NM_000316.2:c.828_831del, NM_001184744.1:c.828_831del, XM_011533967.4:c.867_870del, XM_011533967.3:c.867_870del, XM_011533967.2:c.867_870del, XM_011533967.1:c.867_870del, XM_017006932.3:c.867_870del, XM_017006932.2:c.867_870del, XM_017006932.1:c.867_870del, XM_011533968.3:c.849_852del, XM_011533968.2:c.849_852del, XM_011533968.1:c.849_852del, XM_017006934.2:c.867_870del, XM_017006934.1:c.867_870del, XM_047448633.1:c.828_831del, XM_047448632.1:c.867_870del, NP_000307.1:p.Gly277fs, NP_001171673.1:p.Gly277fs, XP_011532269.1:p.Gly290fs, XP_016862421.1:p.Gly290fs, XP_011532270.1:p.Gly284fs, XP_016862423.1:p.Gly290fs, XP_047304589.1:p.Gly277fs, XP_047304588.1:p.Gly290fs

Select item 14869757992.

rs1486975799 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:46903339 (GRCh38)
3:46944829 (GRCh37)
Canonical SPDI:: NC_000003.12:46903338:A:G
Gene:: PTH1R (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.46903339A>G, NC_000003.11:g.46944829A>G, NG_008864.1:g.30594A>G, NM_000316.3:c.1465A>G, NM_000316.2:c.1465A>G, NM_001184744.1:c.1465A>G, XM_011533967.4:c.1504A>G, XM_011533967.3:c.1504A>G, XM_011533967.2:c.1504A>G, XM_011533967.1:c.1504A>G, XM_017006932.3:c.1504A>G, XM_017006932.2:c.1504A>G, XM_017006932.1:c.1504A>G, XM_011533968.3:c.1486A>G, XM_011533968.2:c.1486A>G, XM_011533968.1:c.1486A>G, XM_017006934.2:c.1500A>G, XM_017006934.1:c.1500A>G, XM_047448633.1:c.1461A>G, XM_047448632.1:c.1504A>G, NP_000307.1:p.Ser489Gly, NP_001171673.1:p.Ser489Gly, XP_011532269.1:p.Ser502Gly, XP_016862421.1:p.Ser502Gly, XP_011532270.1:p.Ser496Gly, XP_047304588.1:p.Ser502Gly

Select item 14847067953.

rs1484706795 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 3:46899416 (GRCh38)
3:46940906 (GRCh37)
Canonical SPDI:: NC_000003.12:46899415:A:G,NC_000003.12:46899415:A:T
Gene:: PTH1R (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
HGVS:: NC_000003.12:g.46899416A>G, NC_000003.12:g.46899416A>T, NC_000003.11:g.46940906A>G, NC_000003.11:g.46940906A>T, NG_008864.1:g.26671A>G, NG_008864.1:g.26671A>T, NM_000316.3:c.948A>G, NM_000316.3:c.948A>T, NM_000316.2:c.948A>G, NM_000316.2:c.948A>T, NM_001184744.1:c.948A>G, NM_001184744.1:c.948A>T, XM_011533967.4:c.987A>G, XM_011533967.4:c.987A>T, XM_011533967.3:c.987A>G, XM_011533967.3:c.987A>T, XM_011533967.2:c.987A>G, XM_011533967.2:c.987A>T, XM_011533967.1:c.987A>G, XM_011533967.1:c.987A>T, XM_017006932.3:c.987A>G, XM_017006932.3:c.987A>T, XM_017006932.2:c.987A>G, XM_017006932.2:c.987A>T, XM_017006932.1:c.987A>G, XM_017006932.1:c.987A>T, XM_011533968.3:c.969A>G, XM_011533968.3:c.969A>T, XM_011533968.2:c.969A>G, XM_011533968.2:c.969A>T, XM_011533968.1:c.969A>G, XM_011533968.1:c.969A>T, XM_017006934.2:c.987A>G, XM_017006934.2:c.987A>T, XM_017006934.1:c.987A>G, XM_017006934.1:c.987A>T, XM_047448633.1:c.948A>G, XM_047448633.1:c.948A>T, XM_047448632.1:c.987A>G, XM_047448632.1:c.987A>T

Select item 14836264204.

rs1483626420 [Homo sapiens]

Variant type:: DEL
Alleles:: GAG>- [Show Flanks]
Chromosome:: 3:46899417 (GRCh38)
3:46940907 (GRCh37)
Canonical SPDI:: NC_000003.12:46899416:GAG:
Gene:: PTH1R (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.46899417_46899419del, NC_000003.11:g.46940907_46940909del, NG_008864.1:g.26672_26674del, NM_000316.3:c.949_951del, NM_000316.2:c.949_951del, NM_001184744.1:c.949_951del, XM_011533967.4:c.988_990del, XM_011533967.3:c.988_990del, XM_011533967.2:c.988_990del, XM_011533967.1:c.988_990del, XM_017006932.3:c.988_990del, XM_017006932.2:c.988_990del, XM_017006932.1:c.988_990del, XM_011533968.3:c.970_972del, XM_011533968.2:c.970_972del, XM_011533968.1:c.970_972del, XM_017006934.2:c.988_990del, XM_017006934.1:c.988_990del, XM_047448633.1:c.949_951del, XM_047448632.1:c.988_990del, NP_000307.1:p.Glu317del, NP_001171673.1:p.Glu317del, XP_011532269.1:p.Glu330del, XP_016862421.1:p.Glu330del, XP_011532270.1:p.Glu324del, XP_016862423.1:p.Glu330del, XP_047304589.1:p.Glu317del, XP_047304588.1:p.Glu330del

Select item 14804702095.

rs1480470209 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:46895809 (GRCh38)
3:46937299 (GRCh37)
Canonical SPDI:: NC_000003.12:46895808:G:A
Gene:: PTH1R (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000003.12:g.46895809G>A, NC_000003.11:g.46937299G>A, NG_008864.1:g.23064G>A, NM_000316.3:c.253G>A, NM_000316.2:c.253G>A, NM_001184744.1:c.253G>A, XM_011533967.4:c.292G>A, XM_011533967.3:c.292G>A, XM_011533967.2:c.292G>A, XM_011533967.1:c.292G>A, XM_017006932.3:c.292G>A, XM_017006932.2:c.292G>A, XM_017006932.1:c.292G>A, XM_011533968.3:c.274G>A, XM_011533968.2:c.274G>A, XM_011533968.1:c.274G>A, XM_017006934.2:c.292G>A, XM_017006934.1:c.292G>A, XM_047448633.1:c.253G>A, XM_047448632.1:c.292G>A, NP_000307.1:p.Gly85Arg, NP_001171673.1:p.Gly85Arg, XP_011532269.1:p.Gly98Arg, XP_016862421.1:p.Gly98Arg, XP_011532270.1:p.Gly92Arg, XP_016862423.1:p.Gly98Arg, XP_047304589.1:p.Gly85Arg, XP_047304588.1:p.Gly98Arg

Select item 14793706986.

rs1479370698 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:46883573 (GRCh38)
3:46925063 (GRCh37)
Canonical SPDI:: NC_000003.12:46883572:G:A,NC_000003.12:46883572:G:C
Gene:: PTH1R (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000003.12:g.46883573G>A, NC_000003.12:g.46883573G>C, NC_000003.11:g.46925063G>A, NC_000003.11:g.46925063G>C, NG_007555.2:g.3597C>T, NG_007555.2:g.3597C>G, NG_008864.1:g.10828G>A, NG_008864.1:g.10828G>C, NM_000316.3:c.14G>A, NM_000316.3:c.14G>C, NM_000316.2:c.14G>A, NM_000316.2:c.14G>C, NM_001184744.1:c.14G>A, NM_001184744.1:c.14G>C, XM_011533967.4:c.14G>A, XM_011533967.4:c.14G>C, XM_011533967.3:c.14G>A, XM_011533967.3:c.14G>C, XM_011533967.2:c.14G>A, XM_011533967.2:c.14G>C, XM_011533967.1:c.14G>A, XM_011533967.1:c.14G>C, XM_017006932.3:c.14G>A, XM_017006932.3:c.14G>C, XM_017006932.2:c.14G>A, XM_017006932.2:c.14G>C, XM_017006932.1:c.14G>A, XM_017006932.1:c.14G>C, XM_017006934.2:c.14G>A, XM_017006934.2:c.14G>C, XM_017006934.1:c.14G>A, XM_017006934.1:c.14G>C, XM_047448633.1:c.14G>A, XM_047448633.1:c.14G>C, XM_047448632.1:c.14G>A, XM_047448632.1:c.14G>C, NP_000307.1:p.Arg5Gln, NP_000307.1:p.Arg5Pro, NP_001171673.1:p.Arg5Gln, NP_001171673.1:p.Arg5Pro, XP_011532269.1:p.Arg5Gln, XP_011532269.1:p.Arg5Pro, XP_016862421.1:p.Arg5Gln, XP_016862421.1:p.Arg5Pro, XP_016862423.1:p.Arg5Gln, XP_016862423.1:p.Arg5Pro, XP_047304589.1:p.Arg5Gln, XP_047304589.1:p.Arg5Pro, XP_047304588.1:p.Arg5Gln, XP_047304588.1:p.Arg5Pro

Select item 14786900267.

rs1478690026 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:46901447 (GRCh38)
3:46942937 (GRCh37)
Canonical SPDI:: NC_000003.12:46901446:G:A
Gene:: PTH1R (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
HGVS:: NC_000003.12:g.46901447G>A, NC_000003.11:g.46942937G>A, NG_008864.1:g.28702G>A, NM_000316.3:c.1083G>A, NM_000316.2:c.1083G>A, NM_001184744.1:c.1083G>A, XM_011533967.4:c.1122G>A, XM_011533967.3:c.1122G>A, XM_011533967.2:c.1122G>A, XM_011533967.1:c.1122G>A, XM_017006932.3:c.1122G>A, XM_017006932.2:c.1122G>A, XM_017006932.1:c.1122G>A, XM_011533968.3:c.1104G>A, XM_011533968.2:c.1104G>A, XM_011533968.1:c.1104G>A, XM_017006934.2:c.1122G>A, XM_017006934.1:c.1122G>A, XM_047448633.1:c.1083G>A, XM_047448632.1:c.1122G>A, NP_000307.1:p.Trp361Ter, NP_001171673.1:p.Trp361Ter, XP_011532269.1:p.Trp374Ter, XP_016862421.1:p.Trp374Ter, XP_011532270.1:p.Trp368Ter, XP_016862423.1:p.Trp374Ter, XP_047304589.1:p.Trp361Ter, XP_047304588.1:p.Trp374Ter

Select item 14778190858.

rs1477819085 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:46902589 (GRCh38)
3:46944079 (GRCh37)
Canonical SPDI:: NC_000003.12:46902588:G:A
Gene:: PTH1R (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.46902589G>A, NC_000003.11:g.46944079G>A, NG_008864.1:g.29844G>A, NM_000316.3:c.1275G>A, NM_000316.2:c.1275G>A, NM_001184744.1:c.1275G>A, XM_011533967.4:c.1314G>A, XM_011533967.3:c.1314G>A, XM_011533967.2:c.1314G>A, XM_011533967.1:c.1314G>A, XM_017006932.3:c.1314G>A, XM_017006932.2:c.1314G>A, XM_017006932.1:c.1314G>A, XM_011533968.3:c.1296G>A, XM_011533968.2:c.1296G>A, XM_011533968.1:c.1296G>A, XM_017006934.2:c.1310G>A, XM_017006934.1:c.1310G>A, XM_047448633.1:c.1271G>A, XM_047448632.1:c.1314G>A, NP_000307.1:p.Met425Ile, NP_001171673.1:p.Met425Ile, XP_011532269.1:p.Met438Ile, XP_016862421.1:p.Met438Ile, XP_011532270.1:p.Met432Ile, XP_016862423.1:p.Trp437Ter, XP_047304589.1:p.Trp424Ter, XP_047304588.1:p.Met438Ile

Select item 14770308509.

rs1477030850 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:46903539 (GRCh38)
3:46945029 (GRCh37)
Canonical SPDI:: NC_000003.12:46903538:G:C
Gene:: PTH1R (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.46903539G>C, NC_000003.11:g.46945029G>C, NG_008864.1:g.30794G>C, NM_000316.3:c.1665G>C, NM_000316.2:c.1665G>C, NM_001184744.1:c.1665G>C, XM_011533967.4:c.1704G>C, XM_011533967.3:c.1704G>C, XM_011533967.2:c.1704G>C, XM_011533967.1:c.1704G>C, XM_017006932.3:c.1704G>C, XM_017006932.2:c.1704G>C, XM_017006932.1:c.1704G>C, XM_011533968.3:c.1686G>C, XM_011533968.2:c.1686G>C, XM_011533968.1:c.1686G>C, XM_017006934.2:c.*149G>C, XM_017006934.1:c.*149G>C, XM_047448633.1:c.*149G>C, XM_047448632.1:c.1704G>C, NP_000307.1:p.Met555Ile, NP_001171673.1:p.Met555Ile, XP_011532269.1:p.Met568Ile, XP_016862421.1:p.Met568Ile, XP_011532270.1:p.Met562Ile, XP_047304588.1:p.Met568Ile

Select item 147672613910.

rs1476726139 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:46898795 (GRCh38)
3:46940285 (GRCh37)
Canonical SPDI:: NC_000003.12:46898794:G:A
Gene:: PTH1R (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.46898795G>A, NC_000003.11:g.46940285G>A, NG_008864.1:g.26050G>A, NM_000316.3:c.772G>A, NM_000316.2:c.772G>A, NM_001184744.1:c.772G>A, XM_011533967.4:c.811G>A, XM_011533967.3:c.811G>A, XM_011533967.2:c.811G>A, XM_011533967.1:c.811G>A, XM_017006932.3:c.811G>A, XM_017006932.2:c.811G>A, XM_017006932.1:c.811G>A, XM_011533968.3:c.793G>A, XM_011533968.2:c.793G>A, XM_011533968.1:c.793G>A, XM_017006934.2:c.811G>A, XM_017006934.1:c.811G>A, XM_047448633.1:c.772G>A, XM_047448632.1:c.811G>A, NP_000307.1:p.Glu258Lys, NP_001171673.1:p.Glu258Lys, XP_011532269.1:p.Glu271Lys, XP_016862421.1:p.Glu271Lys, XP_011532270.1:p.Glu265Lys, XP_016862423.1:p.Glu271Lys, XP_047304589.1:p.Glu258Lys, XP_047304588.1:p.Glu271Lys

Select item 147638851611.

rs1476388516 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:46898725 (GRCh38)
3:46940215 (GRCh37)
Canonical SPDI:: NC_000003.12:46898724:C:G,NC_000003.12:46898724:C:T
Gene:: PTH1R (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.46898725C>G, NC_000003.12:g.46898725C>T, NC_000003.11:g.46940215C>G, NC_000003.11:g.46940215C>T, NG_008864.1:g.25980C>G, NG_008864.1:g.25980C>T, NM_000316.3:c.702C>G, NM_000316.3:c.702C>T, NM_000316.2:c.702C>G, NM_000316.2:c.702C>T, NM_001184744.1:c.702C>G, NM_001184744.1:c.702C>T, XM_011533967.4:c.741C>G, XM_011533967.4:c.741C>T, XM_011533967.3:c.741C>G, XM_011533967.3:c.741C>T, XM_011533967.2:c.741C>G, XM_011533967.2:c.741C>T, XM_011533967.1:c.741C>G, XM_011533967.1:c.741C>T, XM_017006932.3:c.741C>G, XM_017006932.3:c.741C>T, XM_017006932.2:c.741C>G, XM_017006932.2:c.741C>T, XM_017006932.1:c.741C>G, XM_017006932.1:c.741C>T, XM_011533968.3:c.723C>G, XM_011533968.3:c.723C>T, XM_011533968.2:c.723C>G, XM_011533968.2:c.723C>T, XM_011533968.1:c.723C>G, XM_011533968.1:c.723C>T, XM_017006934.2:c.741C>G, XM_017006934.2:c.741C>T, XM_017006934.1:c.741C>G, XM_017006934.1:c.741C>T, XM_047448633.1:c.702C>G, XM_047448633.1:c.702C>T, XM_047448632.1:c.741C>G, XM_047448632.1:c.741C>T

Select item 147541377312.

rs1475413773 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:46902751 (GRCh38)
3:46944242 (GRCh37)
Canonical SPDI:: NC_000003.12:46902751:TTTTTT:TTTTTTT
Gene:: PTH1R (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTT=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.46902757dup, NC_000003.11:g.46944247dup, NG_008864.1:g.30012dup, NM_000316.3:c.1362dup, NM_000316.2:c.1362dup, NM_001184744.1:c.1362dup, XM_011533967.4:c.1401dup, XM_011533967.3:c.1401dup, XM_011533967.2:c.1401dup, XM_011533967.1:c.1401dup, XM_017006932.3:c.1401dup, XM_017006932.2:c.1401dup, XM_017006932.1:c.1401dup, XM_011533968.3:c.1383dup, XM_011533968.2:c.1383dup, XM_011533968.1:c.1383dup, XM_017006934.2:c.1397dup, XM_017006934.1:c.1397dup, XM_047448633.1:c.1358dup, XM_047448632.1:c.1401dup, NP_000307.1:p.Val455fs, NP_001171673.1:p.Val455fs, XP_011532269.1:p.Val468fs, XP_016862421.1:p.Val468fs, XP_011532270.1:p.Val462fs, XP_016862423.1:p.Leu466fs, XP_047304589.1:p.Leu453fs, XP_047304588.1:p.Val468fs

Select item 147523650413.

rs1475236504 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:46903431 (GRCh38)
3:46944921 (GRCh37)
Canonical SPDI:: NC_000003.12:46903430:C:T
Gene:: PTH1R (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
T=0.000028/7 (GnomAD_exomes)
HGVS:: NC_000003.12:g.46903431C>T, NC_000003.11:g.46944921C>T, NG_008864.1:g.30686C>T, NM_000316.3:c.1557C>T, NM_000316.2:c.1557C>T, NM_001184744.1:c.1557C>T, XM_011533967.4:c.1596C>T, XM_011533967.3:c.1596C>T, XM_011533967.2:c.1596C>T, XM_011533967.1:c.1596C>T, XM_017006932.3:c.1596C>T, XM_017006932.2:c.1596C>T, XM_017006932.1:c.1596C>T, XM_011533968.3:c.1578C>T, XM_011533968.2:c.1578C>T, XM_011533968.1:c.1578C>T, XM_017006934.2:c.*41C>T, XM_017006934.1:c.*41C>T, XM_047448633.1:c.*41C>T, XM_047448632.1:c.1596C>T

Select item 147500260614.

rs1475002606 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:46898393 (GRCh38)
3:46939883 (GRCh37)
Canonical SPDI:: NC_000003.12:46898392:C:G
Gene:: PTH1R (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.46898393C>G, NC_000003.11:g.46939883C>G, NG_008864.1:g.25648C>G, NM_000316.3:c.559C>G, NM_000316.2:c.559C>G, NM_001184744.1:c.559C>G, XM_011533967.4:c.598C>G, XM_011533967.3:c.598C>G, XM_011533967.2:c.598C>G, XM_011533967.1:c.598C>G, XM_017006932.3:c.598C>G, XM_017006932.2:c.598C>G, XM_017006932.1:c.598C>G, XM_011533968.3:c.580C>G, XM_011533968.2:c.580C>G, XM_011533968.1:c.580C>G, XM_017006934.2:c.598C>G, XM_017006934.1:c.598C>G, XM_047448633.1:c.559C>G, XM_047448632.1:c.598C>G, NP_000307.1:p.Leu187Val, NP_001171673.1:p.Leu187Val, XP_011532269.1:p.Leu200Val, XP_016862421.1:p.Leu200Val, XP_011532270.1:p.Leu194Val, XP_016862423.1:p.Leu200Val, XP_047304589.1:p.Leu187Val, XP_047304588.1:p.Leu200Val

Select item 147116663015.

rs1471166630 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:46901060 (GRCh38)
3:46942550 (GRCh37)
Canonical SPDI:: NC_000003.12:46901059:G:A
Gene:: PTH1R (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.46901060G>A, NC_000003.11:g.46942550G>A, NG_008864.1:g.28315G>A, NM_000316.3:c.1024G>A, NM_000316.2:c.1024G>A, NM_001184744.1:c.1024G>A, XM_011533967.4:c.1063G>A, XM_011533967.3:c.1063G>A, XM_011533967.2:c.1063G>A, XM_011533967.1:c.1063G>A, XM_017006932.3:c.1063G>A, XM_017006932.2:c.1063G>A, XM_017006932.1:c.1063G>A, XM_011533968.3:c.1045G>A, XM_011533968.2:c.1045G>A, XM_011533968.1:c.1045G>A, XM_017006934.2:c.1063G>A, XM_017006934.1:c.1063G>A, XM_047448633.1:c.1024G>A, XM_047448632.1:c.1063G>A, NP_000307.1:p.Val342Ile, NP_001171673.1:p.Val342Ile, XP_011532269.1:p.Val355Ile, XP_016862421.1:p.Val355Ile, XP_011532270.1:p.Val349Ile, XP_016862423.1:p.Val355Ile, XP_047304589.1:p.Val342Ile, XP_047304588.1:p.Val355Ile

Select item 147043577516.

rs1470435775 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:46893947 (GRCh38)
3:46935437 (GRCh37)
Canonical SPDI:: NC_000003.12:46893946:T:C,NC_000003.12:46893946:T:G
Gene:: PTH1R (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.46893947T>C, NC_000003.12:g.46893947T>G, NC_000003.11:g.46935437T>C, NC_000003.11:g.46935437T>G, NG_008864.1:g.21202T>C, NG_008864.1:g.21202T>G, NM_000316.3:c.116T>C, NM_000316.3:c.116T>G, NM_000316.2:c.116T>C, NM_000316.2:c.116T>G, NM_001184744.1:c.116T>C, NM_001184744.1:c.116T>G, XM_011533967.4:c.116T>C, XM_011533967.4:c.116T>G, XM_011533967.3:c.116T>C, XM_011533967.3:c.116T>G, XM_011533967.2:c.116T>C, XM_011533967.2:c.116T>G, XM_011533967.1:c.116T>C, XM_011533967.1:c.116T>G, XM_017006932.3:c.116T>C, XM_017006932.3:c.116T>G, XM_017006932.2:c.116T>C, XM_017006932.2:c.116T>G, XM_017006932.1:c.116T>C, XM_017006932.1:c.116T>G, XM_011533968.3:c.98T>C, XM_011533968.3:c.98T>G, XM_011533968.2:c.98T>C, XM_011533968.2:c.98T>G, XM_011533968.1:c.98T>C, XM_011533968.1:c.98T>G, XM_017006934.2:c.116T>C, XM_017006934.2:c.116T>G, XM_017006934.1:c.116T>C, XM_017006934.1:c.116T>G, XM_047448633.1:c.116T>C, XM_047448633.1:c.116T>G, XM_047448632.1:c.116T>C, XM_047448632.1:c.116T>G, NP_000307.1:p.Phe39Ser, NP_000307.1:p.Phe39Cys, NP_001171673.1:p.Phe39Ser, NP_001171673.1:p.Phe39Cys, XP_011532269.1:p.Phe39Ser, XP_011532269.1:p.Phe39Cys, XP_016862421.1:p.Phe39Ser, XP_016862421.1:p.Phe39Cys, XP_011532270.1:p.Phe33Ser, XP_011532270.1:p.Phe33Cys, XP_016862423.1:p.Phe39Ser, XP_016862423.1:p.Phe39Cys, XP_047304589.1:p.Phe39Ser, XP_047304589.1:p.Phe39Cys, XP_047304588.1:p.Phe39Ser, XP_047304588.1:p.Phe39Cys

Select item 146896991117.

rs1468969911 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:46903526 (GRCh38)
3:46945016 (GRCh37)
Canonical SPDI:: NC_000003.12:46903525:C:T
Gene:: PTH1R (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.46903526C>T, NC_000003.11:g.46945016C>T, NG_008864.1:g.30781C>T, NM_000316.3:c.1652C>T, NM_000316.2:c.1652C>T, NM_001184744.1:c.1652C>T, XM_011533967.4:c.1691C>T, XM_011533967.3:c.1691C>T, XM_011533967.2:c.1691C>T, XM_011533967.1:c.1691C>T, XM_017006932.3:c.1691C>T, XM_017006932.2:c.1691C>T, XM_017006932.1:c.1691C>T, XM_011533968.3:c.1673C>T, XM_011533968.2:c.1673C>T, XM_011533968.1:c.1673C>T, XM_017006934.2:c.*136C>T, XM_017006934.1:c.*136C>T, XM_047448633.1:c.*136C>T, XM_047448632.1:c.1691C>T, NP_000307.1:p.Thr551Ile, NP_001171673.1:p.Thr551Ile, XP_011532269.1:p.Thr564Ile, XP_016862421.1:p.Thr564Ile, XP_011532270.1:p.Thr558Ile, XP_047304588.1:p.Thr564Ile

Select item 146383703018.

rs1463837030 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:46898738 (GRCh38)
3:46940228 (GRCh37)
Canonical SPDI:: NC_000003.12:46898737:G:A
Gene:: PTH1R (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.46898738G>A, NC_000003.11:g.46940228G>A, NG_008864.1:g.25993G>A, NM_000316.3:c.715G>A, NM_000316.2:c.715G>A, NM_001184744.1:c.715G>A, XM_011533967.4:c.754G>A, XM_011533967.3:c.754G>A, XM_011533967.2:c.754G>A, XM_011533967.1:c.754G>A, XM_017006932.3:c.754G>A, XM_017006932.2:c.754G>A, XM_017006932.1:c.754G>A, XM_011533968.3:c.736G>A, XM_011533968.2:c.736G>A, XM_011533968.1:c.736G>A, XM_017006934.2:c.754G>A, XM_017006934.1:c.754G>A, XM_047448633.1:c.715G>A, XM_047448632.1:c.754G>A, NP_000307.1:p.Val239Ile, NP_001171673.1:p.Val239Ile, XP_011532269.1:p.Val252Ile, XP_016862421.1:p.Val252Ile, XP_011532270.1:p.Val246Ile, XP_016862423.1:p.Val252Ile, XP_047304589.1:p.Val239Ile, XP_047304588.1:p.Val252Ile

Select item 146020381619.

rs1460203816 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:46901453 (GRCh38)
3:46942943 (GRCh37)
Canonical SPDI:: NC_000003.12:46901452:C:T
Gene:: PTH1R (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.46901453C>T, NC_000003.11:g.46942943C>T, NG_008864.1:g.28708C>T, NM_000316.3:c.1089C>T, NM_000316.2:c.1089C>T, NM_001184744.1:c.1089C>T, XM_011533967.4:c.1128C>T, XM_011533967.3:c.1128C>T, XM_011533967.2:c.1128C>T, XM_011533967.1:c.1128C>T, XM_017006932.3:c.1128C>T, XM_017006932.2:c.1128C>T, XM_017006932.1:c.1128C>T, XM_011533968.3:c.1110C>T, XM_011533968.2:c.1110C>T, XM_011533968.1:c.1110C>T, XM_017006934.2:c.1128C>T, XM_017006934.1:c.1128C>T, XM_047448633.1:c.1089C>T, XM_047448632.1:c.1128C>T

Select item 145791113020.

rs1457911130 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:46883587 (GRCh38)
3:46925077 (GRCh37)
Canonical SPDI:: NC_000003.12:46883586:C:T
Gene:: PTH1R (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.46883587C>T, NC_000003.11:g.46925077C>T, NG_007555.2:g.3583G>A, NG_008864.1:g.10842C>T, NM_000316.3:c.28C>T, NM_000316.2:c.28C>T, NM_001184744.1:c.28C>T, XM_011533967.4:c.28C>T, XM_011533967.3:c.28C>T, XM_011533967.2:c.28C>T, XM_011533967.1:c.28C>T, XM_017006932.3:c.28C>T, XM_017006932.2:c.28C>T, XM_017006932.1:c.28C>T, XM_017006934.2:c.28C>T, XM_017006934.1:c.28C>T, XM_047448633.1:c.28C>T, XM_047448632.1:c.28C>T

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Result Filters

Clinical Significance

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Global MAF

Custom range

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Items: 1 to 20 of 617

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