Linked Data
dbSNP Id:
rs765376874
ExAC:
2:241818131 G / A
gnomAD v2:
2-241818131-G-A
gnomAD v4:
2-240878714-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240878714G>A , CM000664.2:g.240878714G>A | GRCh38 |
| NC_000002.11:g.241818131G>A , CM000664.1:g.241818131G>A | GRCh37 |
| NC_000002.10:g.241466804G>A | NCBI36 |
| NG_008005.1:g.14970G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.1072G>A MANE Select | ENSP00000302620.3:p.Val358Met | |
| ENST00000307503.3:c.1072G>A | ENSP00000302620.3:p.Val358Met | |
| ENST00000470255.1:n.850G>A | ||
| NM_000030.2:c.1072G>A | NP_000021.1:p.Val358Met | |
| NM_000030.3:c.1072G>A MANE Select | NP_000021.1:p.Val358Met |