Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97855151A>C , CM000671.2:g.97855151A>C | GRCh38 |
| NC_000009.11:g.100617433A>C , CM000671.1:g.100617433A>C | GRCh37 |
| NC_000009.10:g.99657254A>C | NCBI36 |
| NG_011979.1:g.6897A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004473.4:c.*115A>C MANE Select | NP_004464.2:n.*115A>C |
| ENST00000375123.5:c.*115A>C MANE Select | ENSP00000364265.3:n.*115A>C |
| NM_004473.3:c.*115A>C | NP_004464.2:n.*115A>C |
| ENST00000375123.4:c.*115A>C | ENSP00000364265.3:n.*115A>C |