Linked Data
dbSNP Id:
rs1287750498
gnomAD v2:
19-4816859-C-T
gnomAD v3:
19-4816847-C-T
gnomAD v4:
19-4816847-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816847C>T , CM000681.2:g.4816847C>T | GRCh38 |
| NC_000019.9:g.4816859C>T , CM000681.1:g.4816859C>T | GRCh37 |
| NC_000019.8:g.4767859C>T | NCBI36 |
| NG_031998.1:g.19896G>A , LRG_358:g.19896G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1531G>A MANE Select | ENSP00000248244.4:p.Val511Met | |
| ENST00000248244.5:c.1531G>A | ENSP00000248244.4:p.Val511Met | |
| ENST00000621756.1:c.1114G>A | ENSP00000479467.1:p.Val372Met | |
| NM_182919.3:c.1531G>A , LRG_358t1:c.1531G>A | NP_891549.1:p.Val511Met | |
| NM_001385678.1:c.1489G>A | NP_001372607.1:p.Val497Met | |
| NM_001385679.1:c.1396G>A | NP_001372608.1:p.Val466Met | |
| NM_001385680.1:c.889G>A | NP_001372609.1:p.Val297Met | |
| NM_182919.4:c.1531G>A MANE Select | NP_891549.1:p.Val511Met |