Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20892057C>A , CM000676.2:g.20892057C>A | GRCh38 |
| NC_000014.8:g.21360216C>A , CM000676.1:g.21360216C>A | GRCh37 |
| NC_000014.7:g.20430056C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002935.3:c.371C>A MANE Select | NP_002926.2:p.Thr124Lys |
| ENST00000304639.4:c.371C>A MANE Select | ENSP00000302324.3:p.Thr124Lys |
| NM_002935.2:c.371C>A | NP_002926.2:p.Thr124Lys |
| ENST00000304639.3:c.371C>A | ENSP00000302324.3:p.Thr124Lys |
| XR_110261.2:n.209-16314G>T | |
| XR_110261.3:n.726-16314G>T |