SNP Links for Protein (Select 4505595) - SNP

Links from Protein

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Select item 14903504681.

rs1490350468 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 18:63895305 (GRCh38)
18:61562539 (GRCh37)
Canonical SPDI:: NC_000018.10:63895304:C:G,NC_000018.10:63895304:C:T
Gene:: SERPINB2 (Varview), LOC124904356 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.63895305C>G, NC_000018.10:g.63895305C>T, NC_000018.9:g.61562539C>G, NC_000018.9:g.61562539C>T, NM_002575.3:c.210C>G, NM_002575.3:c.210C>T, NM_002575.2:c.210C>G, NM_002575.2:c.210C>T, XM_024451192.2:c.210C>G, XM_024451192.2:c.210C>T, XM_024451192.1:c.210C>G, XM_024451192.1:c.210C>T, NM_001143818.2:c.210C>G, NM_001143818.2:c.210C>T, NM_001143818.1:c.210C>G, NM_001143818.1:c.210C>T

Select item 14899198962.

rs1489919896 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:63902506 (GRCh38)
18:61569740 (GRCh37)
Canonical SPDI:: NC_000018.10:63902505:G:A
Gene:: SERPINB2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.63902506G>A, NC_000018.9:g.61569740G>A, NM_002575.3:c.781G>A, NM_002575.2:c.781G>A, XM_024451192.2:c.781G>A, XM_024451192.1:c.781G>A, NM_001143818.2:c.781G>A, NM_001143818.1:c.781G>A, NP_002566.1:p.Asp261Asn, XP_024306960.1:p.Asp261Asn, NP_001137290.1:p.Asp261Asn

Select item 14898688183.

rs1489868818 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:63897219 (GRCh38)
18:61564453 (GRCh37)
Canonical SPDI:: NC_000018.10:63897218:A:G
Gene:: SERPINB2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.63897219A>G, NC_000018.9:g.61564453A>G, NM_002575.3:c.417A>G, NM_002575.2:c.417A>G, XM_024451192.2:c.417A>G, XM_024451192.1:c.417A>G, NM_001143818.2:c.417A>G, NM_001143818.1:c.417A>G

Select item 14890664354.

rs1489066435 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:63903040 (GRCh38)
18:61570274 (GRCh37)
Canonical SPDI:: NC_000018.10:63903039:G:A
Gene:: SERPINB2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.63903040G>A, NC_000018.9:g.61570274G>A, NM_002575.3:c.983G>A, NM_002575.2:c.983G>A, XM_024451192.2:c.983G>A, XM_024451192.1:c.983G>A, NM_001143818.2:c.983G>A, NM_001143818.1:c.983G>A, NP_002566.1:p.Gly328Asp, XP_024306960.1:p.Gly328Asp, NP_001137290.1:p.Gly328Asp

Select item 14880827645.

rs1488082764 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 18:63903278 (GRCh38)
18:61570513 (GRCh37)
Canonical SPDI:: NC_000018.10:63903278:TTTTT:TTTTTT
Gene:: SERPINB2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000018.10:g.63903283dup, NC_000018.9:g.61570517dup, NM_002575.3:c.1226dup, NM_002575.2:c.1226dup, XM_024451192.2:c.1226dup, XM_024451192.1:c.1226dup, NM_001143818.2:c.1226dup, NM_001143818.1:c.1226dup, NP_002566.1:p.Gly410fs, XP_024306960.1:p.Gly410fs, NP_001137290.1:p.Gly410fs

Select item 14858136676.

rs1485813667 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 18:63897161 (GRCh38)
18:61564395 (GRCh37)
Canonical SPDI:: NC_000018.10:63897160:A:T
Gene:: SERPINB2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.63897161A>T, NC_000018.9:g.61564395A>T, NM_002575.3:c.359A>T, NM_002575.2:c.359A>T, XM_024451192.2:c.359A>T, XM_024451192.1:c.359A>T, NM_001143818.2:c.359A>T, NM_001143818.1:c.359A>T, NP_002566.1:p.Asn120Ile, XP_024306960.1:p.Asn120Ile, NP_001137290.1:p.Asn120Ile

Select item 14819059317.

rs1481905931 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:63903218 (GRCh38)
18:61570452 (GRCh37)
Canonical SPDI:: NC_000018.10:63903217:G:A
Gene:: SERPINB2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.63903218G>A, NC_000018.9:g.61570452G>A, NM_002575.3:c.1161G>A, NM_002575.2:c.1161G>A, XM_024451192.2:c.1161G>A, XM_024451192.1:c.1161G>A, NM_001143818.2:c.1161G>A, NM_001143818.1:c.1161G>A

Select item 14810693608.

rs1481069360 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:63891462 (GRCh38)
18:61558696 (GRCh37)
Canonical SPDI:: NC_000018.10:63891461:G:A
Gene:: SERPINB2 (Varview), LOC124904356 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.63891462G>A, NC_000018.9:g.61558696G>A, NM_002575.3:c.18G>A, NM_002575.2:c.18G>A, XM_024451192.2:c.18G>A, XM_024451192.1:c.18G>A, NM_001143818.2:c.18G>A, NM_001143818.1:c.18G>A

Select item 14795876739.

rs1479587673 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:63897172 (GRCh38)
18:61564406 (GRCh37)
Canonical SPDI:: NC_000018.10:63897171:G:A
Gene:: SERPINB2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.63897172G>A, NC_000018.9:g.61564406G>A, NM_002575.3:c.370G>A, NM_002575.2:c.370G>A, XM_024451192.2:c.370G>A, XM_024451192.1:c.370G>A, NM_001143818.2:c.370G>A, NM_001143818.1:c.370G>A, NP_002566.1:p.Glu124Lys, XP_024306960.1:p.Glu124Lys, NP_001137290.1:p.Glu124Lys

Select item 147764607810.

rs1477646078 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:63901771 (GRCh38)
18:61569005 (GRCh37)
Canonical SPDI:: NC_000018.10:63901770:T:C
Gene:: SERPINB2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000018.10:g.63901771T>C, NC_000018.9:g.61569005T>C, NM_002575.3:c.567T>C, NM_002575.2:c.567T>C, XM_024451192.2:c.567T>C, XM_024451192.1:c.567T>C, NM_001143818.2:c.567T>C, NM_001143818.1:c.567T>C

Select item 147739948211.

rs1477399482 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 18:63903233 (GRCh38)
18:61570467 (GRCh37)
Canonical SPDI:: NC_000018.10:63903232:T:A
Gene:: SERPINB2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.63903233T>A, NC_000018.9:g.61570467T>A, NM_002575.3:c.1176T>A, NM_002575.2:c.1176T>A, XM_024451192.2:c.1176T>A, XM_024451192.1:c.1176T>A, NM_001143818.2:c.1176T>A, NM_001143818.1:c.1176T>A, NP_002566.1:p.His392Gln, XP_024306960.1:p.His392Gln, NP_001137290.1:p.His392Gln

Select item 147502202612.

rs1475022026 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 18:63895381 (GRCh38)
18:61562615 (GRCh37)
Canonical SPDI:: NC_000018.10:63895380:C:
Gene:: SERPINB2 (Varview), LOC124904356 (Varview)
Functional Consequence:: frameshift_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.63895381del, NC_000018.9:g.61562615del, NM_002575.3:c.286del, NM_002575.2:c.286del, XM_024451192.2:c.286del, XM_024451192.1:c.286del, NM_001143818.2:c.286del, NM_001143818.1:c.286del, NP_002566.1:p.Gln96fs, XP_024306960.1:p.Gln96fs, NP_001137290.1:p.Gln96fs

Select item 147394789713.

rs1473947897 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:63903018 (GRCh38)
18:61570252 (GRCh37)
Canonical SPDI:: NC_000018.10:63903017:A:G
Gene:: SERPINB2 (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_000018.10:g.63903018A>G, NC_000018.9:g.61570252A>G, NM_002575.3:c.961A>G, NM_002575.2:c.961A>G, XM_024451192.2:c.961A>G, XM_024451192.1:c.961A>G, NM_001143818.2:c.961A>G, NM_001143818.1:c.961A>G, NP_002566.1:p.Arg321Gly, XP_024306960.1:p.Arg321Gly, NP_001137290.1:p.Arg321Gly

Select item 147360782214.

rs1473607822 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:63902912 (GRCh38)
18:61570146 (GRCh37)
Canonical SPDI:: NC_000018.10:63902911:A:G
Gene:: SERPINB2 (Varview)
Functional Consequence:: synonymous_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_000018.10:g.63902912A>G, NC_000018.9:g.61570146A>G, NM_002575.3:c.855A>G, NM_002575.2:c.855A>G, XM_024451192.2:c.855A>G, XM_024451192.1:c.855A>G, NM_001143818.2:c.855A>G, NM_001143818.1:c.855A>G

Select item 146506468615.

rs1465064686 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:63903194 (GRCh38)
18:61570428 (GRCh37)
Canonical SPDI:: NC_000018.10:63903193:G:A
Gene:: SERPINB2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.63903194G>A, NC_000018.9:g.61570428G>A, NM_002575.3:c.1137G>A, NM_002575.2:c.1137G>A, XM_024451192.2:c.1137G>A, XM_024451192.1:c.1137G>A, NM_001143818.2:c.1137G>A, NM_001143818.1:c.1137G>A

Select item 146266408616.

rs1462664086 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:63902988 (GRCh38)
18:61570222 (GRCh37)
Canonical SPDI:: NC_000018.10:63902987:C:T
Gene:: SERPINB2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.63902988C>T, NC_000018.9:g.61570222C>T, NM_002575.3:c.931C>T, NM_002575.2:c.931C>T, XM_024451192.2:c.931C>T, XM_024451192.1:c.931C>T, NM_001143818.2:c.931C>T, NM_001143818.1:c.931C>T, NP_002566.1:p.Gln311Ter, XP_024306960.1:p.Gln311Ter, NP_001137290.1:p.Gln311Ter

Select item 146218162917.

rs1462181629 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:63903010 (GRCh38)
18:61570244 (GRCh37)
Canonical SPDI:: NC_000018.10:63903009:A:G
Gene:: SERPINB2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000447/2 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000446/2 (Estonian)
HGVS:: NC_000018.10:g.63903010A>G, NC_000018.9:g.61570244A>G, NM_002575.3:c.953A>G, NM_002575.2:c.953A>G, XM_024451192.2:c.953A>G, XM_024451192.1:c.953A>G, NM_001143818.2:c.953A>G, NM_001143818.1:c.953A>G, NP_002566.1:p.Tyr318Cys, XP_024306960.1:p.Tyr318Cys, NP_001137290.1:p.Tyr318Cys

Select item 145961025218.

rs1459610252 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 18:63903104 (GRCh38)
18:61570338 (GRCh37)
Canonical SPDI:: NC_000018.10:63903103:G:C
Gene:: SERPINB2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.63903104G>C, NC_000018.9:g.61570338G>C, NM_002575.3:c.1047G>C, NM_002575.2:c.1047G>C, XM_024451192.2:c.1047G>C, XM_024451192.1:c.1047G>C, NM_001143818.2:c.1047G>C, NM_001143818.1:c.1047G>C

Select item 145585727419.

rs1455857274 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:63903147 (GRCh38)
18:61570381 (GRCh37)
Canonical SPDI:: NC_000018.10:63903146:G:A
Gene:: SERPINB2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.63903147G>A, NC_000018.9:g.61570381G>A, NM_002575.3:c.1090G>A, NM_002575.2:c.1090G>A, XM_024451192.2:c.1090G>A, XM_024451192.1:c.1090G>A, NM_001143818.2:c.1090G>A, NM_001143818.1:c.1090G>A, NP_002566.1:p.Glu364Lys, XP_024306960.1:p.Glu364Lys, NP_001137290.1:p.Glu364Lys

Select item 145242401620.

rs1452424016 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 18:63897812 (GRCh38)
18:61565046 (GRCh37)
Canonical SPDI:: NC_000018.10:63897811:A:C
Gene:: SERPINB2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000018.10:g.63897812A>C, NC_000018.9:g.61565046A>C, NM_002575.3:c.503A>C, NM_002575.2:c.503A>C, XM_024451192.2:c.503A>C, XM_024451192.1:c.503A>C, NM_001143818.2:c.503A>C, NM_001143818.1:c.503A>C, NP_002566.1:p.Lys168Thr, XP_024306960.1:p.Lys168Thr, NP_001137290.1:p.Lys168Thr

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