Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.197705466C>G , CM000664.2:g.197705466C>G | GRCh38 |
| NC_000002.11:g.198570190C>G , CM000664.1:g.198570190C>G | GRCh37 |
| NC_000002.10:g.198278435C>G | NCBI36 |
| NG_034122.1:g.5163C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138395.4:c.61C>G MANE Select | NP_612404.1:p.Leu21Val |
| ENST00000282276.8:c.61C>G MANE Select | ENSP00000282276.6:p.Leu21Val |
| NM_138395.3:c.61C>G | NP_612404.1:p.Leu21Val |
| ENST00000282276.7:c.61C>G | ENSP00000282276.6:p.Leu21Val |