Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12778040C>T , CM000686.2:g.12778040C>T | GRCh38 |
| NC_000024.9:g.14889974C>T , CM000686.1:g.14889974C>T | GRCh37 |
| NC_000024.8:g.13399368C>T | NCBI36 |
| NG_008311.1:g.81815C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004654.4:c.2661C>T MANE Select | NP_004645.2:p.Leu887= |
| ENST00000338981.7:c.2661C>T MANE Select | ENSP00000342812.3:p.Leu887= |
| NM_004654.3:c.2661C>T | NP_004645.2:p.Leu887= |
| ENST00000426564.6:n.2673C>T | |
| ENST00000651177.1:c.2661C>T | ENSP00000498372.1:p.Leu887= |
| XM_011531469.1:c.2661C>T | XP_011529771.1:p.Leu887= |
| XM_011531470.1:c.2427C>T | XP_011529772.1:p.Leu809= |
| XM_017030078.2:c.2676C>T | XP_016885567.1:p.Leu892= |