Linked Data
ClinVar Variation Id:
48052
ClinVar RCV Id:
RCV000041334
RCV000057361
RCV000148601
RCV000771799
RCV000617798
RCV001088263
RCV004541208
dbSNP Id:
rs60662302
ExAC:
1:156108384 G / A
gnomAD v2:
1-156108384-G-A
gnomAD v3:
1-156138593-G-A
gnomAD v4:
1-156138593-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156138593G>A , CM000663.2:g.156138593G>A | GRCh38 |
| NC_000001.10:g.156108384G>A , CM000663.1:g.156108384G>A | GRCh37 |
| NC_000001.9:g.154375008G>A | NCBI36 |
| NG_008692.2:g.61021G>A , LRG_254:g.61021G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.1246G>A | ENSP00000426535.3:p.Gly416Ser | |
| ENST00000682650.1:c.1714G>A | ENSP00000506904.1:p.Gly572Ser | |
| ENST00000683032.1:c.1804G>A | ENSP00000506771.1:p.Gly602Ser | |
| ENST00000683773.1:n.149G>A | ||
| ENST00000684195.1:c.*896G>A | ENSP00000508220.1:n.*896G>A | |
| ENST00000361308.9:c.1804G>A | ENSP00000355292.6:p.Gly602Ser | |
| ENST00000368300.9:c.1804G>A MANE Select | ENSP00000357283.4:p.Gly602Ser | |
| ENST00000674518.1:c.*1154G>A | ENSP00000502261.1:n.*1154G>A | |
| ENST00000674600.1:c.*1603G>A | ENSP00000501666.1:n.*1603G>A | |
| ENST00000675455.1:c.*1604G>A | ENSP00000501795.1:n.*1604G>A | |
| ENST00000675667.1:c.1804G>A | ENSP00000501803.1:p.Gly602Ser | |
| ENST00000675874.1:c.*1275G>A | ENSP00000501851.1:n.*1275G>A | |
| ENST00000675881.1:c.*815G>A | ENSP00000501670.1:n.*815G>A | |
| ENST00000675939.1:c.1804G>A | ENSP00000502256.1:p.Gly602Ser | |
| ENST00000675989.1:n.3407G>A | ||
| ENST00000676208.1:c.*907G>A | ENSP00000502468.1:n.*907G>A | |
| ENST00000676385.2:c.1714G>A | ENSP00000502091.1:p.Gly572Ser | |
| ENST00000676434.1:c.*1559G>A | ENSP00000501648.1:n.*1559G>A | |
| ENST00000347559.6:c.1714G>A | ENSP00000292304.3:p.Gly572Ser | |
| ENST00000368299.7:c.1804G>A | ENSP00000357282.3:p.Gly602Ser | |
| ENST00000368300.8:c.1804G>A | ENSP00000357283.4:p.Gly602Ser | |
| ENST00000448611.6:c.1468G>A | ENSP00000395597.2:p.Gly490Ser | |
| ENST00000473598.6:c.1507G>A | ENSP00000421821.1:p.Gly503Ser | |
| ENST00000496738.5:n.2017G>A | ||
| ENST00000506981.1:n.388G>A | ||
| ENST00000508500.1:c.592G>A | ENSP00000424977.1:p.Gly198Ser | |
| NM_001257374.2:c.1468G>A | NP_001244303.1:p.Gly490Ser | |
| NM_001282626.1:c.1804G>A | NP_001269555.1:p.Gly602Ser | |
| NM_170707.3:c.1804G>A | NP_733821.1:p.Gly602Ser | |
| NM_170708.3:c.1714G>A | NP_733822.1:p.Gly572Ser | |
| XM_011509533.1:c.1468G>A | XP_011507835.1:p.Gly490Ser | |
| XM_011509534.1:c.1180G>A | XP_011507836.1:p.Gly394Ser | |
| XR_921781.1:n.2093G>A | ||
| XM_011509534.2:c.1180G>A | XP_011507836.1:p.Gly394Ser | |
| XR_921781.2:n.2091G>A | ||
| NM_170707.4:c.1804G>A MANE Select | NP_733821.1:p.Gly602Ser | |
| NM_001257374.3:c.1468G>A | NP_001244303.1:p.Gly490Ser | |
| NM_001282626.2:c.1804G>A | NP_001269555.1:p.Gly602Ser | |
| NM_170708.4:c.1714G>A | NP_733822.1:p.Gly572Ser |