Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209651554G>A , CM000663.2:g.209651554G>A | GRCh38 |
| NC_000001.10:g.209824899G>A , CM000663.1:g.209824899G>A | GRCh37 |
| NC_000001.9:g.207891522G>A | NCBI36 |
| NG_007116.1:g.5922C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000228.3:c.-37-573C>T MANE Select | NP_000219.2:n.-37-573C>T |
| ENST00000356082.9:c.-37-573C>T MANE Select | ENSP00000348384.3:n.-37-573C>T |
| NM_000228.2:c.-37-573C>T | NP_000219.2:n.-37-573C>T |
| NM_001127641.1:c.-37-573C>T | NP_001121113.1:n.-37-573C>T |
| ENST00000356082.8:c.-37-573C>T | ENSP00000348384.3:n.-37-573C>T |
| ENST00000367030.7:c.-37-573C>T | ENSP00000355997.3:n.-37-573C>T |
| XM_017001272.2:c.-37-573C>T | XP_016856761.1:n.-37-573C>T |