Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21011005C>A , CM000664.2:g.21011005C>A | GRCh38 |
| NC_000002.11:g.21233877C>A , CM000664.1:g.21233877C>A | GRCh37 |
| NC_000002.10:g.21087382C>A | NCBI36 |
| NG_011793.1:g.38069G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.5863G>T MANE Select | ENSP00000233242.1:p.Val1955Leu | |
| ENST00000616098.4:c.5863G>T | ENSP00000477990.1:p.Val1955Leu | |
| NM_000384.2:c.5863G>T | NP_000375.2:p.Val1955Leu | |
| XM_011532809.1:c.5863G>T | XP_011531111.1:p.Val1955Leu | |
| NM_000384.3:c.5863G>T MANE Select | NP_000375.3:p.Val1955Leu |