Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1535357G>A , CM000663.2:g.1535357G>A | GRCh38 |
| NC_000001.10:g.1470737G>A , CM000663.1:g.1470737G>A | GRCh37 |
| NC_000001.9:g.1460600G>A | NCBI36 |
| NG_041807.1:g.10004C>T | |
| NG_053035.1:g.28215G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378733.9:c.*2C>T MANE Select | ENSP00000368007.4:n.*2C>T | |
| ENST00000378733.8:c.*2C>T | ENSP00000368007.4:n.*2C>T | |
| ENST00000425828.1:c.*2C>T | ENSP00000400311.1:n.*2C>T | |
| NM_001114748.1:c.*2C>T | NP_001108220.1:n.*2C>T | |
| NM_001114748.2:c.*2C>T MANE Select | NP_001108220.1:n.*2C>T |