Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.15531106C>T , CM000672.2:g.15531106C>T | GRCh38 |
| NC_000010.10:g.15573105C>T , CM000672.1:g.15573105C>T | GRCh37 |
| NC_000010.9:g.15613111C>T | NCBI36 |
| NG_034116.1:g.194230G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378076.4:c.2926G>A MANE Select | ENSP00000367316.3:p.Val976Ile | |
| ENST00000378076.3:c.2926G>A | ENSP00000367316.3:p.Val976Ile | |
| NM_001291494.1:c.2881G>A | NP_001278423.1:p.Val961Ile | |
| NM_003638.2:c.2926G>A | NP_003629.2:p.Val976Ile | |
| NM_003638.3:c.2926G>A MANE Select | NP_003629.2:p.Val976Ile | |
| NM_001291494.2:c.2881G>A | NP_001278423.1:p.Val961Ile |