Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.203186952T>G , CM000663.2:g.203186952T>G | GRCh38 |
| NC_000001.10:g.203156080T>G , CM000663.1:g.203156080T>G | GRCh37 |
| NC_000001.9:g.201422703T>G | NCBI36 |
| NG_013056.1:g.4843A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_011509105.1:c.-329A>C | XP_011507407.1:n.-329A>C |
| XM_011509106.1:c.-329A>C | XP_011507408.1:n.-329A>C |
| XM_011509108.1:c.-329A>C | XP_011507410.1:n.-329A>C |