Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.39928021G>A , CM000670.2:g.39928021G>A | GRCh38 |
| NC_000008.10:g.39785540G>A , CM000670.1:g.39785540G>A | GRCh37 |
| NC_000008.9:g.39904697G>A | NCBI36 |
| NG_028155.1:g.19213G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002164.6:c.1048G>A MANE Select | NP_002155.1:p.Val350Met |
| ENST00000518237.6:c.1048G>A MANE Select | ENSP00000430950.1:p.Val350Met |
| NM_002164.5:c.1048G>A | NP_002155.1:p.Val350Met |
| ENST00000253513.11:c.*535G>A | ENSP00000253513.7:n.*535G>A |
| ENST00000518237.5:c.1048G>A | ENSP00000430950.1:p.Val350Met |
| ENST00000522495.5:c.1048G>A | ENSP00000430505.1:p.Val350Met |
| ENST00000523779.1:n.394G>A |