Linked Data
ClinVar Variation Id:
555629
ClinVar RCV Id:
RCV000671487
dbSNP Id:
rs775430253
ExAC:
5:131721167 G / A
gnomAD v2:
5-131721167-G-A
gnomAD v3:
5-132385475-G-A
gnomAD v4:
5-132385475-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132385475G>A , CM000667.2:g.132385475G>A | GRCh38 |
| NC_000005.9:g.131721167G>A , CM000667.1:g.131721167G>A | GRCh37 |
| NC_000005.8:g.131749066G>A | NCBI36 |
| NG_008982.1:g.20767G>A | |
| NG_008982.2:g.20772G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.665+1161G>A | ENSP00000388838.2:n.665+1161G>A | |
| ENST00000435065.7:c.872G>A | ENSP00000402760.2:p.Gly291Glu | |
| ENST00000448810.6:c.800G>A | ENSP00000401860.2:p.Gly267Glu | |
| ENST00000686757.1:c.819G>A | ENSP00000510721.1:p.Gly273= | |
| ENST00000687740.1:n.1960G>A | ||
| ENST00000688151.1:n.1992G>A | ||
| ENST00000689271.1:c.671+1155G>A | ENSP00000510797.1:n.671+1155G>A | |
| ENST00000690900.1:c.771G>A | ENSP00000510703.1:p.Gly257= | |
| ENST00000692212.1:n.626G>A | ||
| ENST00000692355.1:c.204+1174G>A | ||
| ENST00000692413.1:c.819G>A | ENSP00000509374.1:p.Gly273= | |
| ENST00000692825.1:c.868G>A | ENSP00000509447.1:n.868G>A | |
| ENST00000693308.1:c.813G>A | ENSP00000509770.1:p.Gly271= | |
| ENST00000693763.1:n.1960G>A | ||
| ENST00000245407.8:c.800G>A MANE Select | ENSP00000245407.3:p.Gly267Glu | |
| ENST00000245407.7:c.800G>A | ENSP00000245407.3:p.Gly267Glu | |
| ENST00000415928.5:c.569G>A | ENSP00000388838.1:p.Gly190Glu | |
| ENST00000435065.6:c.872G>A | ENSP00000402760.2:p.Gly291Glu | |
| ENST00000437841.6:c.*115G>A | ENSP00000400553.1:n.*115G>A | |
| ENST00000448810.5:c.148G>A | ||
| ENST00000461013.5:n.8222G>A | ||
| NM_001308122.1:c.872G>A | NP_001295051.1:p.Gly291Glu | |
| NM_003060.3:c.800G>A | NP_003051.1:p.Gly267Glu | |
| XM_011543590.1:c.182G>A | XP_011541892.1:p.Gly61Glu | |
| XR_427718.1:n.1160G>A | ||
| XR_948290.1:n.1141G>A | ||
| XR_948291.1:n.1154G>A | ||
| XM_011543590.2:c.182G>A | XP_011541892.1:p.Gly61Glu | |
| XM_017009778.2:c.272G>A | XP_016865267.1:p.Gly91Glu | |
| XR_001742215.1:n.1141G>A | ||
| XR_001742216.1:n.1160G>A | ||
| XR_427718.2:n.1160G>A | ||
| XR_948290.2:n.1141G>A | ||
| XR_948291.2:n.1154G>A | ||
| NM_003060.4:c.800G>A MANE Select | NP_003051.1:p.Gly267Glu | |
| NM_001308122.2:c.872G>A | NP_001295051.1:p.Gly291Glu |