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