Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66806426C>T , CM000679.2:g.66806426C>T | GRCh38 |
| NC_000017.10:g.64802544C>T , CM000679.1:g.64802544C>T | GRCh37 |
| NC_000017.9:g.62233006C>T | NCBI36 |
| NG_012206.1:g.508619C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002737.3:c.*2389C>T MANE Select | NP_002728.2:n.*2389C>T |
| ENST00000413366.8:c.*2389C>T MANE Select | ENSP00000408695.3:n.*2389C>T |
| NM_002737.2:c.*2389C>T | NP_002728.1:n.*2389C>T |
| ENST00000413366.7:c.*2389C>T | ENSP00000408695.3:n.*2389C>T |
| XM_011524989.1:c.*2389C>T | XP_011523291.1:n.*2389C>T |
| XM_011524990.1:c.*2389C>T | XP_011523292.1:n.*2389C>T |
| XM_017024837.1:c.*2389C>T | XP_016880326.1:n.*2389C>T |
| XM_024450829.1:c.*2389C>T | XP_024306597.1:n.*2389C>T |
| XM_024450830.1:c.*2389C>T | XP_024306598.1:n.*2389C>T |