Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53196665C>T , CM000663.2:g.53196665C>T | GRCh38 |
| NC_000001.10:g.53662337C>T , CM000663.1:g.53662337C>T | GRCh37 |
| NC_000001.9:g.53434925C>T | NCBI36 |
| NG_008035.1:g.5237C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371486.3:c.-279C>T | ENSP00000360541.3:n.-279C>T | |
| NM_000098.2:c.-279C>T | NP_000089.1:n.-279C>T | |
| NM_001330589.1:c.-279C>T | NP_001317518.1:n.-279C>T |