Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.31373121T>G , CM000663.2:g.31373121T>G | GRCh38 |
| NC_000001.10:g.31845968T>G , CM000663.1:g.31845968T>G | GRCh37 |
| NC_000001.9:g.31618555T>G | NCBI36 |
| NG_047049.1:g.5163A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000482018.1:c.-27-80A>C | ENSP00000473982.1:n.-27-80A>C | |
| XM_011541007.1:c.-107A>C | XP_011539309.1:n.-107A>C | |
| NM_001320996.1:c.-107A>C | NP_001307925.1:n.-107A>C | |
| NM_004102.4:c.-107A>C | NP_004093.1:n.-107A>C | |
| XM_011541007.3:c.-107A>C | XP_011539309.1:n.-107A>C |