Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.30319621C>G , CM000683.2:g.30319621C>G | GRCh38 |
| NC_000021.8:g.31691939C>G , CM000683.1:g.31691939C>G | GRCh37 |
| NC_000021.7:g.30613810C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_203405.2:c.415G>C MANE Select | NP_981950.1:p.Val139Leu |
| ENST00000360542.5:c.415G>C MANE Select | ENSP00000353742.3:p.Val139Leu |
| NM_203405.1:c.415G>C | NP_981950.1:p.Val139Leu |
| ENST00000360542.4:c.415G>C | ENSP00000353742.3:p.Val139Leu |