Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94418432C>T , CM000663.2:g.94418432C>T | GRCh38 |
| NC_000001.10:g.94883988C>T , CM000663.1:g.94883988C>T | GRCh37 |
| NC_000001.9:g.94656576C>T | NCBI36 |
| NG_008865.1:g.5056C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370214.9:c.-47C>T MANE Select | ENSP00000359233.4:n.-47C>T | |
| NM_001122674.1:c.-47C>T | NP_001116146.1:n.-47C>T | |
| NM_002858.3:c.-47C>T | NP_002849.1:n.-47C>T | |
| XM_006710802.2:c.-47C>T | XP_006710865.2:n.-47C>T | |
| NM_002858.4:c.-47C>T MANE Select | NP_002849.1:n.-47C>T | |
| NM_001122674.2:c.-47C>T | NP_001116146.1:n.-47C>T |