Linked Data
ClinVar Variation Id:
351980
dbSNP Id:
rs138315990
ExAC:
5:149240492 C / A
gnomAD v2:
5-149240492-C-A
gnomAD v3:
5-149860929-C-A
gnomAD v4:
5-149860929-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149860929C>A , CM000667.2:g.149860929C>A | GRCh38 |
| NC_000005.9:g.149240492C>A , CM000667.1:g.149240492C>A | GRCh37 |
| NC_000005.8:g.149220685C>A | NCBI36 |
| NG_009102.1:g.88865G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255266.10:c.2549G>T MANE Select | ENSP00000255266.5:p.Gly850Val | |
| ENST00000255266.9:c.2549G>T | ENSP00000255266.5:p.Gly850Val | |
| ENST00000508173.5:n.2733G>T | ||
| ENST00000512670.1:n.1914G>T | ||
| ENST00000613228.1:c.2306G>T | ENSP00000478060.1:p.Gly769Val | |
| ENST00000617647.4:c.2306G>T | ENSP00000482774.1:p.Gly769Val | |
| NM_000440.2:c.2549G>T | NP_000431.2:p.Gly850Val | |
| XM_011537648.1:c.2549G>T | XP_011535950.1:p.Gly850Val | |
| XM_011537649.1:c.2003G>T | XP_011535951.1:p.Gly668Val | |
| XM_011537650.1:c.1664G>T | XP_011535952.1:p.Gly555Val | |
| XM_011537651.1:c.1502G>T | XP_011535953.1:p.Gly501Val | |
| XM_011537652.1:c.1472G>T | XP_011535954.1:p.Gly491Val | |
| XM_011537653.1:c.1472G>T | XP_011535955.1:p.Gly491Val | |
| XM_011537654.1:c.1472G>T | XP_011535956.1:p.Gly491Val | |
| XM_011537650.2:c.1664G>T | XP_011535952.1:p.Gly555Val | |
| XM_011537651.2:c.1502G>T | XP_011535953.1:p.Gly501Val | |
| XM_011537653.2:c.1472G>T | XP_011535955.1:p.Gly491Val | |
| XM_011537654.2:c.1472G>T | XP_011535956.1:p.Gly491Val | |
| XM_017009572.2:c.2306G>T | XP_016865061.1:p.Gly769Val | |
| NM_000440.3:c.2549G>T MANE Select | NP_000431.2:p.Gly850Val |