Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149927759T>C , CM000663.2:g.149927759T>C | GRCh38 |
| NC_000001.10:g.149899651T>C , CM000663.1:g.149899651T>C | GRCh37 |
| NC_000001.9:g.148166275T>C | NCBI36 |
| NG_032777.1:g.5494A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005850.5:c.1A>G MANE Select | NP_005841.1:p.Met1Val |
| ENST00000271628.9:c.1A>G MANE Select | ENSP00000271628.8:p.Met1Val |
| NM_005850.4:c.1A>G | NP_005841.1:p.Met1Val |
| ENST00000271628.8:c.1A>G | ENSP00000271628.8:p.Met1Val |