Linked Data
dbSNP Id:
rs147533006
ExAC:
1:20944963 G / A
gnomAD v2:
1-20944963-G-A
gnomAD v3:
1-20618470-G-A
gnomAD v4:
1-20618470-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20618470G>A , CM000663.2:g.20618470G>A | GRCh38 |
| NC_000001.10:g.20944963G>A , CM000663.1:g.20944963G>A | GRCh37 |
| NC_000001.9:g.20817550G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375071.4:c.343G>A MANE Select | ENSP00000364212.3:p.Val115Met | |
| ENST00000375071.3:c.343G>A | ENSP00000364212.3:p.Val115Met | |
| ENST00000461985.1:n.329G>A | ||
| NM_001785.2:c.343G>A | NP_001776.1:p.Val115Met | |
| NM_001785.3:c.343G>A MANE Select | NP_001776.1:p.Val115Met |