Linked Data
ClinVar Variation Id:
67496
dbSNP Id:
rs150988911
ExAC:
7:150656789 C / T
gnomAD v2:
7-150656789-C-T
gnomAD v3:
7-150959701-C-T
gnomAD v4:
7-150959701-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150959701C>T , CM000669.2:g.150959701C>T | GRCh38 |
| NC_000007.13:g.150656789C>T , CM000669.1:g.150656789C>T | GRCh37 |
| NC_000007.12:g.150287722C>T | NCBI36 |
| NG_008916.1:g.23226G>A , LRG_288:g.23226G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684241.1:n.1176G>A | ||
| ENST00000262186.10:c.343G>A MANE Select | ENSP00000262186.5:p.Val115Met | |
| ENST00000262186.9:c.343G>A | ENSP00000262186.5:p.Val115Met | |
| ENST00000430723.4:c.166G>A | ENSP00000387657.4:p.Val56Met | |
| ENST00000532957.5:n.566G>A | ||
| NM_000238.3:c.343G>A , LRG_288t1:c.343G>A | NP_000229.1:p.Val115Met | |
| NM_172056.2:c.343G>A , LRG_288t2:c.343G>A | NP_742053.1:p.Val115Met | |
| XM_011516185.1:c.43G>A | XP_011514487.1:p.Val15Met | |
| XM_011516186.1:c.343G>A | XP_011514488.1:p.Val115Met | |
| XM_011516185.2:c.43G>A | XP_011514487.1:p.Val15Met | |
| XM_011516186.3:c.343G>A | XP_011514488.1:p.Val115Met | |
| XM_017012195.1:c.193G>A | XP_016867684.1:p.Val65Met | |
| XM_017012196.1:c.166G>A | XP_016867685.1:p.Val56Met | |
| NM_000238.4:c.343G>A MANE Select | NP_000229.1:p.Val115Met |