Linked Data
ClinVar Variation Id:
29874
dbSNP Id:
rs121909835
ExAC:
5:149263074 C / T
gnomAD v2:
5-149263074-C-T
gnomAD v3:
5-149883511-C-T
gnomAD v4:
5-149883511-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149883511C>T , CM000667.2:g.149883511C>T | GRCh38 |
| NC_000005.9:g.149263074C>T , CM000667.1:g.149263074C>T | GRCh37 |
| NC_000005.8:g.149243267C>T | NCBI36 |
| NG_009102.1:g.66283G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000255266.10:c.2053G>A MANE Select | ENSP00000255266.5:p.Val685Met | |
| ENST00000255266.9:c.2053G>A | ENSP00000255266.5:p.Val685Met | |
| ENST00000508173.5:n.2237G>A | ||
| ENST00000613228.1:c.1810G>A | ENSP00000478060.1:p.Val604Met | |
| ENST00000617647.4:c.1810G>A | ENSP00000482774.1:p.Val604Met | |
| NM_000440.2:c.2053G>A | NP_000431.2:p.Val685Met | |
| XM_011537648.1:c.2053G>A | XP_011535950.1:p.Val685Met | |
| XM_011537649.1:c.1507G>A | XP_011535951.1:p.Val503Met | |
| XM_011537650.1:c.1168G>A | XP_011535952.1:p.Val390Met | |
| XM_011537651.1:c.1006G>A | XP_011535953.1:p.Val336Met | |
| XM_011537652.1:c.976G>A | XP_011535954.1:p.Val326Met | |
| XM_011537653.1:c.976G>A | XP_011535955.1:p.Val326Met | |
| XM_011537654.1:c.976G>A | XP_011535956.1:p.Val326Met | |
| XM_011537650.2:c.1168G>A | XP_011535952.1:p.Val390Met | |
| XM_011537651.2:c.1006G>A | XP_011535953.1:p.Val336Met | |
| XM_011537653.2:c.976G>A | XP_011535955.1:p.Val326Met | |
| XM_011537654.2:c.976G>A | XP_011535956.1:p.Val326Met | |
| XM_017009572.2:c.1810G>A | XP_016865061.1:p.Val604Met | |
| NM_000440.3:c.2053G>A MANE Select | NP_000431.2:p.Val685Met |