Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.31373079C>A , CM000663.2:g.31373079C>A | GRCh38 |
| NC_000001.10:g.31845926C>A , CM000663.1:g.31845926C>A | GRCh37 |
| NC_000001.9:g.31618513C>A | NCBI36 |
| NG_047049.1:g.5205G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000482018.1:c.-27-38G>T | ENSP00000473982.1:n.-27-38G>T | |
| XM_011541007.1:c.-65G>T | XP_011539309.1:n.-65G>T | |
| NM_001320996.1:c.-65G>T | NP_001307925.1:n.-65G>T | |
| NM_004102.4:c.-65G>T | NP_004093.1:n.-65G>T | |
| XM_011541007.3:c.-65G>T | XP_011539309.1:n.-65G>T |