Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108084636A>G , CM000685.2:g.108084636A>G | GRCh38 |
| NC_000023.10:g.107327866A>G , CM000685.1:g.107327866A>G | GRCh37 |
| NC_000023.9:g.107214522A>G | NCBI36 |
| NG_012521.1:g.11983T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217958.8:c.*338T>C MANE Select | ENSP00000217958.3:n.*338T>C | |
| ENST00000217958.7:c.*338T>C | ENSP00000217958.3:n.*338T>C | |
| ENST00000372296.5:c.*484T>C | ENSP00000361370.1:n.*484T>C | |
| NM_002814.3:c.*338T>C | NP_002805.1:n.*338T>C | |
| NM_170750.2:c.*484T>C | NP_736606.1:n.*484T>C | |
| NM_002814.4:c.*338T>C MANE Select | NP_002805.1:n.*338T>C | |
| NM_170750.3:c.*484T>C | NP_736606.1:n.*484T>C |