Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.120627127G>C , CM000685.2:g.120627127G>C | GRCh38 |
| NC_000023.10:g.119760982G>C , CM000685.1:g.119760982G>C | GRCh37 |
| NC_000023.9:g.119645010G>C | NCBI36 |
| NG_016219.1:g.8024C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304661.6:c.40C>G MANE Select | ENSP00000304364.5:p.Leu14Val | |
| ENST00000304661.5:c.40C>G | ENSP00000304364.5:p.Leu14Val | |
| ENST00000371313.2:c.40C>G | ENSP00000360363.2:p.Leu14Val | |
| NM_001011551.2:c.40C>G | NP_001011551.1:p.Leu14Val | |
| NM_152692.4:c.40C>G | NP_689905.1:p.Leu14Val | |
| NM_001011551.3:c.40C>G MANE Select | NP_001011551.1:p.Leu14Val | |
| NM_152692.5:c.40C>G | NP_689905.1:p.Leu14Val |