Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4945832T>G , CM000679.2:g.4945832T>G | GRCh38 |
| NC_000017.10:g.4849127T>G , CM000679.1:g.4849127T>G | GRCh37 |
| NC_000017.9:g.4789872T>G | NCBI36 |
| NG_012063.2:g.4742T>G | |
| NG_032945.1:g.8255A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225655.6:c.*68A>C MANE Select | ENSP00000225655.5:n.*68A>C | |
| ENST00000225655.5:c.*68A>C | ENSP00000225655.5:n.*68A>C | |
| ENST00000574872.1:c.*68A>C | ENSP00000465019.1:n.*68A>C | |
| NM_005022.3:c.*68A>C | NP_005013.1:n.*68A>C | |
| XM_017024761.1:c.*575A>C | XP_016880250.1:n.*575A>C | |
| NM_001375991.1:c.*575A>C | NP_001362920.1:n.*575A>C | |
| NM_005022.4:c.*68A>C MANE Select | NP_005013.1:n.*68A>C |