Linked Data
ClinVar Variation Id:
1381680
ClinVar RCV Id:
RCV001922029
dbSNP Id:
rs551153027
ExAC:
5:131729457 G / A
gnomAD v2:
5-131729457-G-A
gnomAD v3:
5-132393765-G-A
gnomAD v4:
5-132393765-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132393765G>A , CM000667.2:g.132393765G>A | GRCh38 |
| NC_000005.9:g.131729457G>A , CM000667.1:g.131729457G>A | GRCh37 |
| NC_000005.8:g.131757356G>A | NCBI36 |
| NG_008982.1:g.29057G>A | |
| NG_008982.2:g.29062G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1292-420G>A | ENSP00000388838.2:n.1292-420G>A | |
| ENST00000435065.7:c.1612G>A | ENSP00000402760.2:p.Gly538Ser | |
| ENST00000448810.6:c.*392G>A | ENSP00000401860.2:n.*392G>A | |
| ENST00000685543.1:n.1681G>A | ||
| ENST00000686757.1:c.*704G>A | ENSP00000510721.1:n.*704G>A | |
| ENST00000686868.1:n.532G>A | ||
| ENST00000687740.1:n.4225G>A | ||
| ENST00000688151.1:n.2850G>A | ||
| ENST00000689271.1:c.1387G>A | ENSP00000510797.1:p.Gly463Ser | |
| ENST00000690900.1:c.*704G>A | ENSP00000510703.1:n.*704G>A | |
| ENST00000692212.1:n.4680G>A | ||
| ENST00000692355.1:c.793G>A | ||
| ENST00000692413.1:c.1522G>A | ENSP00000509374.1:p.Gly508Ser | |
| ENST00000692825.1:c.1608G>A | ENSP00000509447.1:n.1608G>A | |
| ENST00000693308.1:c.1588G>A | ENSP00000509770.1:p.Gly530Ser | |
| ENST00000693763.1:n.2700G>A | ||
| ENST00000245407.8:c.1540G>A MANE Select | ENSP00000245407.3:p.Gly514Ser | |
| ENST00000245407.7:c.1540G>A | ENSP00000245407.3:p.Gly514Ser | |
| ENST00000435065.6:c.1612G>A | ENSP00000402760.2:p.Gly538Ser | |
| ENST00000447841.5:c.384G>A | ||
| ENST00000448810.5:c.802G>A | ||
| ENST00000461013.5:n.8962G>A | ||
| ENST00000475308.1:n.2218G>A | ||
| NM_001308122.1:c.1612G>A | NP_001295051.1:p.Gly538Ser | |
| NM_003060.3:c.1540G>A | NP_003051.1:p.Gly514Ser | |
| XM_011543590.1:c.922G>A | XP_011541892.1:p.Gly308Ser | |
| XR_948290.1:n.1666G>A | ||
| XM_011543590.2:c.922G>A | XP_011541892.1:p.Gly308Ser | |
| XM_017009778.2:c.1012G>A | XP_016865267.1:p.Gly338Ser | |
| XR_001742215.1:n.1795G>A | ||
| XR_001742216.1:n.1814G>A | ||
| XR_427718.2:n.1900G>A | ||
| XR_948290.2:n.1666G>A | ||
| XR_948291.2:n.1894G>A | ||
| NM_003060.4:c.1540G>A MANE Select | NP_003051.1:p.Gly514Ser | |
| NM_001308122.2:c.1612G>A | NP_001295051.1:p.Gly538Ser |