Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71130504C>T , CM000664.2:g.71130504C>T | GRCh38 |
| NC_000002.11:g.71357634C>T , CM000664.1:g.71357634C>T | GRCh37 |
| NC_000002.10:g.71211142C>T | NCBI36 |
| NG_008977.1:g.4761G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000468427.2:c.-673C>T | ENSP00000511582.1:n.-673C>T | |
| ENST00000498451.3:c.-162C>T | ENSP00000475545.1:n.-162C>T | |
| ENST00000695484.2:c.-162C>T | ENSP00000511956.1:n.-162C>T | |
| ENST00000244230.6:c.-162C>T | ENSP00000244230.2:n.-162C>T | |
| NM_005791.2:c.-162C>T | NP_005782.1:n.-162C>T |