Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.52927236A>G , CM000663.2:g.52927236A>G | GRCh38 |
| NC_000001.10:g.53392908A>G , CM000663.1:g.53392908A>G | GRCh37 |
| NC_000001.9:g.53165496A>G | NCBI36 |
| NG_012211.1:g.4961A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001007098.2:c.-161A>G | NP_001007099.1:n.-161A>G |
| NM_001193599.1:c.-161A>G | NP_001180528.1:n.-161A>G |
| NM_001193600.1:c.-161A>G | NP_001180529.1:n.-161A>G |
| NM_001193617.1:c.-346A>G | NP_001180546.1:n.-346A>G |
| NM_001330587.1:c.-161A>G | NP_001317516.1:n.-161A>G |
| NM_002979.4:c.-161A>G | NP_002970.2:n.-161A>G |
| ENST00000371514.7:c.-161A>G | ENSP00000360569.3:n.-161A>G |