Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.197705406A>G , CM000664.2:g.197705406A>G | GRCh38 |
| NC_000002.11:g.198570130A>G , CM000664.1:g.198570130A>G | GRCh37 |
| NC_000002.10:g.198278375A>G | NCBI36 |
| NG_034122.1:g.5103A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138395.4:c.1A>G MANE Select | NP_612404.1:p.Met1Val |
| ENST00000282276.8:c.1A>G MANE Select | ENSP00000282276.6:p.Met1Val |
| NM_138395.3:c.1A>G | NP_612404.1:p.Met1Val |
| ENST00000282276.7:c.1A>G | ENSP00000282276.6:p.Met1Val |