SNP Links for Protein (Select 1005261216) - SNP

Links from Protein

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Select item 14846228721.

rs1484622872 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:45363964 (GRCh38)
15:45656162 (GRCh37)
Canonical SPDI:: NC_000015.10:45363963:T:G
Gene:: GATM (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.45363964T>G, NC_000015.9:g.45656162T>G, NG_011674.2:g.43354A>C, NM_001482.3:c.1095A>C, NM_001482.2:c.1095A>C, NM_001321015.2:c.708A>C, NM_001321015.1:c.708A>C, XM_047432385.1:c.1254A>C, XM_047432386.1:c.1143A>C, XM_047432387.1:c.1143A>C, XM_047432388.1:c.708A>C

Select item 14813342442.

rs1481334244 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:45364832 (GRCh38)
15:45657030 (GRCh37)
Canonical SPDI:: NC_000015.10:45364831:G:A,NC_000015.10:45364831:G:C
Gene:: GATM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000015.10:g.45364832G>A, NC_000015.10:g.45364832G>C, NC_000015.9:g.45657030G>A, NC_000015.9:g.45657030G>C, NG_011674.2:g.42486C>T, NG_011674.2:g.42486C>G, NM_001482.3:c.1007C>T, NM_001482.3:c.1007C>G, NM_001482.2:c.1007C>T, NM_001482.2:c.1007C>G, NM_001321015.2:c.620C>T, NM_001321015.2:c.620C>G, NM_001321015.1:c.620C>T, NM_001321015.1:c.620C>G, XM_047432385.1:c.1166C>T, XM_047432385.1:c.1166C>G, XM_047432386.1:c.1055C>T, XM_047432386.1:c.1055C>G, XM_047432387.1:c.1055C>T, XM_047432387.1:c.1055C>G, XM_047432388.1:c.620C>T, XM_047432388.1:c.620C>G, NP_001473.1:p.Thr336Ile, NP_001473.1:p.Thr336Ser, NP_001307944.1:p.Thr207Ile, NP_001307944.1:p.Thr207Ser, XP_047288341.1:p.Thr389Ile, XP_047288341.1:p.Thr389Ser, XP_047288342.1:p.Thr352Ile, XP_047288342.1:p.Thr352Ser, XP_047288343.1:p.Thr352Ile, XP_047288343.1:p.Thr352Ser, XP_047288344.1:p.Thr207Ile, XP_047288344.1:p.Thr207Ser

Select item 14799695213.

rs1479969521 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:45363974 (GRCh38)
15:45656172 (GRCh37)
Canonical SPDI:: NC_000015.10:45363973:A:G
Gene:: GATM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.45363974A>G, NC_000015.9:g.45656172A>G, NG_011674.2:g.43344T>C, NM_001482.3:c.1085T>C, NM_001482.2:c.1085T>C, NM_001321015.2:c.698T>C, NM_001321015.1:c.698T>C, XM_047432385.1:c.1244T>C, XM_047432386.1:c.1133T>C, XM_047432387.1:c.1133T>C, XM_047432388.1:c.698T>C, NP_001473.1:p.Val362Ala, NP_001307944.1:p.Val233Ala, XP_047288341.1:p.Val415Ala, XP_047288342.1:p.Val378Ala, XP_047288343.1:p.Val378Ala, XP_047288344.1:p.Val233Ala

Select item 14767144814.

rs1476714481 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:45368215 (GRCh38)
15:45660413 (GRCh37)
Canonical SPDI:: NC_000015.10:45368214:T:C
Gene:: GATM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000026/7 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000015.10:g.45368215T>C, NC_000015.9:g.45660413T>C, NG_011674.2:g.39103A>G, NM_001482.3:c.530A>G, NM_001482.2:c.530A>G, NM_001321015.2:c.143A>G, NM_001321015.1:c.143A>G, XM_047432385.1:c.689A>G, XM_047432386.1:c.578A>G, XM_047432387.1:c.578A>G, XM_047432388.1:c.143A>G, NP_001473.1:p.Asn177Ser, NP_001307944.1:p.Asn48Ser, XP_047288341.1:p.Asn230Ser, XP_047288342.1:p.Asn193Ser, XP_047288343.1:p.Asn193Ser, XP_047288344.1:p.Asn48Ser

Select item 14724114935.

rs1472411493 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:45368071 (GRCh38)
15:45660269 (GRCh37)
Canonical SPDI:: NC_000015.10:45368070:T:C
Gene:: GATM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000015.10:g.45368071T>C, NC_000015.9:g.45660269T>C, NG_011674.2:g.39247A>G, NM_001482.3:c.674A>G, NM_001482.2:c.674A>G, NM_001321015.2:c.287A>G, NM_001321015.1:c.287A>G, XM_047432385.1:c.833A>G, XM_047432386.1:c.722A>G, XM_047432387.1:c.722A>G, XM_047432388.1:c.287A>G, NP_001473.1:p.Gln225Arg, NP_001307944.1:p.Gln96Arg, XP_047288341.1:p.Gln278Arg, XP_047288342.1:p.Gln241Arg, XP_047288343.1:p.Gln241Arg, XP_047288344.1:p.Gln96Arg

Select item 14691757496.

rs1469175749 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:45366422 (GRCh38)
15:45658620 (GRCh37)
Canonical SPDI:: NC_000015.10:45366421:A:G
Gene:: GATM (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.45366422A>G, NC_000015.9:g.45658620A>G, NG_011674.2:g.40896T>C, NM_001482.3:c.762T>C, NM_001482.2:c.762T>C, NM_001321015.2:c.375T>C, NM_001321015.1:c.375T>C, XM_047432385.1:c.921T>C, XM_047432386.1:c.810T>C, XM_047432387.1:c.810T>C, XM_047432388.1:c.375T>C

Select item 14616532187.

rs1461653218 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:45362143 (GRCh38)
15:45654341 (GRCh37)
Canonical SPDI:: NC_000015.10:45362142:C:T
Gene:: GATM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.45362143C>T, NC_000015.9:g.45654341C>T, NG_011674.2:g.45175G>A, NM_001482.3:c.1238G>A, NM_001482.2:c.1238G>A, NM_001321015.2:c.851G>A, NM_001321015.1:c.851G>A, XM_047432385.1:c.1397G>A, XM_047432386.1:c.1286G>A, XM_047432387.1:c.1286G>A, XM_047432388.1:c.851G>A, NP_001473.1:p.Arg413Gln, NP_001307944.1:p.Arg284Gln, XP_047288341.1:p.Arg466Gln, XP_047288342.1:p.Arg429Gln, XP_047288343.1:p.Arg429Gln, XP_047288344.1:p.Arg284Gln

Select item 14609027238.

rs1460902723 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:45366092 (GRCh38)
15:45658290 (GRCh37)
Canonical SPDI:: NC_000015.10:45366091:A:G
Gene:: GATM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.45366092A>G, NC_000015.9:g.45658290A>G, NG_011674.2:g.41226T>C, NM_001482.3:c.932T>C, NM_001482.2:c.932T>C, NM_001321015.2:c.545T>C, NM_001321015.1:c.545T>C, XM_047432385.1:c.1091T>C, XM_047432386.1:c.980T>C, XM_047432387.1:c.980T>C, XM_047432388.1:c.545T>C, NP_001473.1:p.Ile311Thr, NP_001307944.1:p.Ile182Thr, XP_047288341.1:p.Ile364Thr, XP_047288342.1:p.Ile327Thr, XP_047288343.1:p.Ile327Thr, XP_047288344.1:p.Ile182Thr

Select item 14541546149.

rs1454154614 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 15:45369414 (GRCh38)
15:45661612 (GRCh37)
Canonical SPDI:: NC_000015.10:45369413:A:C,NC_000015.10:45369413:A:G
Gene:: GATM (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Clinical significance:: uncertain-significance,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.45369414A>C, NC_000015.10:g.45369414A>G, NC_000015.9:g.45661612A>C, NC_000015.9:g.45661612A>G, NG_011674.2:g.37904T>G, NG_011674.2:g.37904T>C, NM_001482.3:c.396T>G, NM_001482.3:c.396T>C, NM_001482.2:c.396T>G, NM_001482.2:c.396T>C, NM_001321015.2:c.9T>G, NM_001321015.2:c.9T>C, NM_001321015.1:c.9T>G, NM_001321015.1:c.9T>C, XM_047432385.1:c.555T>G, XM_047432385.1:c.555T>C, XM_047432386.1:c.444T>G, XM_047432386.1:c.444T>C, XM_047432387.1:c.444T>G, XM_047432387.1:c.444T>C, XM_047432388.1:c.9T>G, XM_047432388.1:c.9T>C, NP_001473.1:p.Asn132Lys, NP_001307944.1:p.Asn3Lys, XP_047288341.1:p.Asn185Lys, XP_047288342.1:p.Asn148Lys, XP_047288343.1:p.Asn148Lys, XP_047288344.1:p.Asn3Lys

Select item 145374313810.

rs1453743138 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:45368151 (GRCh38)
15:45660349 (GRCh37)
Canonical SPDI:: NC_000015.10:45368150:T:C
Gene:: GATM (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.45368151T>C, NC_000015.9:g.45660349T>C, NG_011674.2:g.39167A>G, NM_001482.3:c.594A>G, NM_001482.2:c.594A>G, NM_001321015.2:c.207A>G, NM_001321015.1:c.207A>G, XM_047432385.1:c.753A>G, XM_047432386.1:c.642A>G, XM_047432387.1:c.642A>G, XM_047432388.1:c.207A>G

Select item 145082792011.

rs1450827920 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:45362215 (GRCh38)
15:45654413 (GRCh37)
Canonical SPDI:: NC_000015.10:45362214:G:A
Gene:: GATM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.45362215G>A, NC_000015.9:g.45654413G>A, NG_011674.2:g.45103C>T, NM_001482.3:c.1166C>T, NM_001482.2:c.1166C>T, NM_001321015.2:c.779C>T, NM_001321015.1:c.779C>T, XM_047432385.1:c.1325C>T, XM_047432386.1:c.1214C>T, XM_047432387.1:c.1214C>T, XM_047432388.1:c.779C>T, NP_001473.1:p.Thr389Ile, NP_001307944.1:p.Thr260Ile, XP_047288341.1:p.Thr442Ile, XP_047288342.1:p.Thr405Ile, XP_047288343.1:p.Thr405Ile, XP_047288344.1:p.Thr260Ile

Select item 143451885612.

rs1434518856 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:45363925 (GRCh38)
15:45656123 (GRCh37)
Canonical SPDI:: NC_000015.10:45363924:T:G
Gene:: GATM (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.45363925T>G, NC_000015.9:g.45656123T>G, NG_011674.2:g.43393A>C, NM_001482.3:c.1134A>C, NM_001482.2:c.1134A>C, NM_001321015.2:c.747A>C, NM_001321015.1:c.747A>C, XM_047432385.1:c.1293A>C, XM_047432386.1:c.1182A>C, XM_047432387.1:c.1182A>C, XM_047432388.1:c.747A>C

Select item 143280310413.

rs1432803104 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:45369354 (GRCh38)
15:45661552 (GRCh37)
Canonical SPDI:: NC_000015.10:45369353:C:T
Gene:: GATM (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.45369354C>T, NC_000015.9:g.45661552C>T, NG_011674.2:g.37964G>A, NM_001482.3:c.456G>A, NM_001482.2:c.456G>A, NM_001321015.2:c.69G>A, NM_001321015.1:c.69G>A, XM_047432385.1:c.615G>A, XM_047432386.1:c.504G>A, XM_047432387.1:c.504G>A, XM_047432388.1:c.69G>A

Select item 143182071614.

rs1431820716 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:45366395 (GRCh38)
15:45658593 (GRCh37)
Canonical SPDI:: NC_000015.10:45366394:T:C
Gene:: GATM (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.45366395T>C, NC_000015.9:g.45658593T>C, NG_011674.2:g.40923A>G, NM_001482.3:c.789A>G, NM_001482.2:c.789A>G, NM_001321015.2:c.402A>G, NM_001321015.1:c.402A>G, XM_047432385.1:c.948A>G, XM_047432386.1:c.837A>G, XM_047432387.1:c.837A>G, XM_047432388.1:c.402A>G

Select item 142954110215.

rs1429541102 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:45366174 (GRCh38)
15:45658372 (GRCh37)
Canonical SPDI:: NC_000015.10:45366173:G:A
Gene:: GATM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.45366174G>A, NC_000015.9:g.45658372G>A, NG_011674.2:g.41144C>T, NM_001482.3:c.850C>T, NM_001482.2:c.850C>T, NM_001321015.2:c.463C>T, NM_001321015.1:c.463C>T, XM_047432385.1:c.1009C>T, XM_047432386.1:c.898C>T, XM_047432387.1:c.898C>T, XM_047432388.1:c.463C>T, NP_001473.1:p.His284Tyr, NP_001307944.1:p.His155Tyr, XP_047288341.1:p.His337Tyr, XP_047288342.1:p.His300Tyr, XP_047288343.1:p.His300Tyr, XP_047288344.1:p.His155Tyr

Select item 142482715816.

rs1424827158 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:45366432 (GRCh38)
15:45658630 (GRCh37)
Canonical SPDI:: NC_000015.10:45366431:G:A
Gene:: GATM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000023/6 (TOPMED)
HGVS:: NC_000015.10:g.45366432G>A, NC_000015.9:g.45658630G>A, NG_011674.2:g.40886C>T, NM_001482.3:c.752C>T, NM_001482.2:c.752C>T, NM_001321015.2:c.365C>T, NM_001321015.1:c.365C>T, XM_047432385.1:c.911C>T, XM_047432386.1:c.800C>T, XM_047432387.1:c.800C>T, XM_047432388.1:c.365C>T, NP_001473.1:p.Pro251Leu, NP_001307944.1:p.Pro122Leu, XP_047288341.1:p.Pro304Leu, XP_047288342.1:p.Pro267Leu, XP_047288343.1:p.Pro267Leu, XP_047288344.1:p.Pro122Leu

Select item 141407699317.

rs1414076993 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:45364009 (GRCh38)
15:45656207 (GRCh37)
Canonical SPDI:: NC_000015.10:45364008:T:C
Gene:: GATM (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.45364009T>C, NC_000015.9:g.45656207T>C, NG_011674.2:g.43309A>G, NM_001482.3:c.1050A>G, NM_001482.2:c.1050A>G, NM_001321015.2:c.663A>G, NM_001321015.1:c.663A>G, XM_047432385.1:c.1209A>G, XM_047432386.1:c.1098A>G, XM_047432387.1:c.1098A>G, XM_047432388.1:c.663A>G

Select item 140512412318.

rs1405124123 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:45369380 (GRCh38)
15:45661578 (GRCh37)
Canonical SPDI:: NC_000015.10:45369379:G:A,NC_000015.10:45369379:G:C
Gene:: GATM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.45369380G>A, NC_000015.10:g.45369380G>C, NC_000015.9:g.45661578G>A, NC_000015.9:g.45661578G>C, NG_011674.2:g.37938C>T, NG_011674.2:g.37938C>G, NM_001482.3:c.430C>T, NM_001482.3:c.430C>G, NM_001482.2:c.430C>T, NM_001482.2:c.430C>G, NM_001321015.2:c.43C>T, NM_001321015.2:c.43C>G, NM_001321015.1:c.43C>T, NM_001321015.1:c.43C>G, XM_047432385.1:c.589C>T, XM_047432385.1:c.589C>G, XM_047432386.1:c.478C>T, XM_047432386.1:c.478C>G, XM_047432387.1:c.478C>T, XM_047432387.1:c.478C>G, XM_047432388.1:c.43C>T, XM_047432388.1:c.43C>G, NP_001473.1:p.Pro144Ser, NP_001473.1:p.Pro144Ala, NP_001307944.1:p.Pro15Ser, NP_001307944.1:p.Pro15Ala, XP_047288341.1:p.Pro197Ser, XP_047288341.1:p.Pro197Ala, XP_047288342.1:p.Pro160Ser, XP_047288342.1:p.Pro160Ala, XP_047288343.1:p.Pro160Ser, XP_047288343.1:p.Pro160Ala, XP_047288344.1:p.Pro15Ser, XP_047288344.1:p.Pro15Ala

Select item 139396808719.

rs1393968087 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:45368120 (GRCh38)
15:45660318 (GRCh37)
Canonical SPDI:: NC_000015.10:45368119:T:C
Gene:: GATM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.45368120T>C, NC_000015.9:g.45660318T>C, NG_011674.2:g.39198A>G, NM_001482.3:c.625A>G, NM_001482.2:c.625A>G, NM_001321015.2:c.238A>G, NM_001321015.1:c.238A>G, XM_047432385.1:c.784A>G, XM_047432386.1:c.673A>G, XM_047432387.1:c.673A>G, XM_047432388.1:c.238A>G, NP_001473.1:p.Lys209Glu, NP_001307944.1:p.Lys80Glu, XP_047288341.1:p.Lys262Glu, XP_047288342.1:p.Lys225Glu, XP_047288343.1:p.Lys225Glu, XP_047288344.1:p.Lys80Glu

Select item 139237997620.

rs1392379976 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:45368198 (GRCh38)
15:45660396 (GRCh37)
Canonical SPDI:: NC_000015.10:45368197:G:A
Gene:: GATM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.45368198G>A, NC_000015.9:g.45660396G>A, NG_011674.2:g.39120C>T, NM_001482.3:c.547C>T, NM_001482.2:c.547C>T, NM_001321015.2:c.160C>T, NM_001321015.1:c.160C>T, XM_047432385.1:c.706C>T, XM_047432386.1:c.595C>T, XM_047432387.1:c.595C>T, XM_047432388.1:c.160C>T, NP_001473.1:p.Pro183Ser, NP_001307944.1:p.Pro54Ser, XP_047288341.1:p.Pro236Ser, XP_047288342.1:p.Pro199Ser, XP_047288343.1:p.Pro199Ser, XP_047288344.1:p.Pro54Ser

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