Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159204333C>T , CM000663.2:g.159204333C>T | GRCh38 |
| NC_000001.10:g.159174123C>T , CM000663.1:g.159174123C>T | GRCh37 |
| NC_000001.9:g.157440747C>T | NCBI36 |
| NG_011626.1:g.4614C>T | |
| NG_011626.3:g.5321C>T | |
| NG_051933.1:g.37770C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002036.3:c.-627C>T | NP_002027.2:n.-627C>T |
| ENST00000368122.2:c.-627C>T | ENSP00000357104.1:n.-627C>T |
| ENST00000537147.5:c.-627C>T | ENSP00000441985.1:n.-627C>T |