Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.31373113G>A , CM000663.2:g.31373113G>A | GRCh38 |
| NC_000001.10:g.31845960G>A , CM000663.1:g.31845960G>A | GRCh37 |
| NC_000001.9:g.31618547G>A | NCBI36 |
| NG_047049.1:g.5171C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000482018.1:c.-27-72C>T | ENSP00000473982.1:n.-27-72C>T | |
| XM_011541007.1:c.-99C>T | XP_011539309.1:n.-99C>T | |
| NM_001320996.1:c.-99C>T | NP_001307925.1:n.-99C>T | |
| NM_004102.4:c.-99C>T | NP_004093.1:n.-99C>T | |
| XM_011541007.3:c.-99C>T | XP_011539309.1:n.-99C>T |