Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31125810G>T , CM000668.2:g.31125810G>T | GRCh38 |
| NC_000006.11:g.31093587G>T , CM000668.1:g.31093587G>T | GRCh37 |
| NC_000006.10:g.31201566G>T | NCBI36 |
| NG_021348.1:g.15980G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014068.3:c.-94G>T MANE Select | NP_054787.2:n.-94G>T |
| ENST00000259881.10:c.-94G>T MANE Select | ENSP00000259881.9:n.-94G>T |
| NM_014068.2:c.-94G>T | NP_054787.2:n.-94G>T |
| ENST00000259881.9:c.-94G>T | ENSP00000259881.9:n.-94G>T |
| ENST00000479581.5:n.61+10919G>T | |
| ENST00000548049.1:n.251G>T | |
| ENST00000550838.1:n.130G>T | |
| ENST00000552747.1:n.53+10919G>T |