Linked Data
dbSNP Id:
rs1216209455
gnomAD v2:
7-65547355-G-A
gnomAD v4:
7-66082368-G-A
PubMed:
PMID:25363768
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66082368G>A , CM000669.2:g.66082368G>A | GRCh38 |
| NC_000007.13:g.65547355G>A , CM000669.1:g.65547355G>A | GRCh37 |
| NC_000007.12:g.65184790G>A | NCBI36 |
| NG_009288.1:g.11580G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304874.14:c.208G>A MANE Select | ENSP00000307188.9:p.Val70Met | |
| ENST00000362000.10:c.13G>A | ENSP00000354710.6:p.Val5Met | |
| ENST00000380839.9:c.208G>A | ENSP00000370219.4:p.Val70Met | |
| ENST00000395331.4:c.208G>A | ENSP00000378740.3:p.Val70Met | |
| ENST00000395332.8:c.208G>A | ENSP00000378741.3:p.Val70Met | |
| ENST00000671817.1:c.208G>A | ENSP00000500462.1:p.Val70Met | |
| ENST00000672498.1:c.208G>A | ENSP00000500227.1:p.Val70Met | |
| ENST00000672586.1:n.113G>A | ||
| ENST00000672676.1:n.378G>A | ||
| ENST00000673350.1:n.456G>A | ||
| ENST00000673518.1:c.208G>A | ENSP00000499889.1:p.Val70Met | |
| ENST00000673594.1:n.57G>A | ||
| ENST00000304874.13:c.208G>A | ENSP00000307188.9:p.Val70Met | |
| ENST00000362000.9:c.13G>A | ENSP00000354710.5:p.Val5Met | |
| ENST00000380839.8:c.208G>A | ENSP00000370219.4:p.Val70Met | |
| ENST00000395331.3:c.208G>A | ENSP00000378740.3:p.Val70Met | |
| ENST00000395332.7:c.208G>A | ENSP00000378741.3:p.Val70Met | |
| ENST00000487982.5:n.274G>A | ||
| ENST00000496336.1:n.449G>A | ||
| NM_000048.3:c.208G>A | NP_000039.2:p.Val70Met | |
| NM_001024943.1:c.208G>A | NP_001020114.1:p.Val70Met | |
| NM_001024944.1:c.208G>A | NP_001020115.1:p.Val70Met | |
| NM_001024946.1:c.208G>A | NP_001020117.1:p.Val70Met | |
| NM_000048.4:c.208G>A MANE Select | NP_000039.2:p.Val70Met | |
| NM_001024943.2:c.208G>A | NP_001020114.1:p.Val70Met | |
| NM_001024944.2:c.208G>A | NP_001020115.1:p.Val70Met | |
| NM_001024946.2:c.208G>A | NP_001020117.1:p.Val70Met |