Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18269975A>G , CM000673.2:g.18269975A>G | GRCh38 |
| NC_000011.9:g.18291522A>G , CM000673.1:g.18291522A>G | GRCh37 |
| NC_000011.8:g.18248098A>G | NCBI36 |
| NG_021330.1:g.8715A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405158.2:c.*120A>G | ENSP00000384906.2:n.*120A>G | |
| NM_000331.4:c.*120A>G | NP_000322.2:n.*120A>G | |
| NM_001178006.1:c.*120A>G | NP_001171477.1:n.*120A>G | |
| NM_199161.3:c.*120A>G | NP_954630.1:n.*120A>G | |
| NM_000331.5:c.*120A>G | NP_000322.2:n.*120A>G | |
| NM_001178006.2:c.*120A>G | NP_001171477.1:n.*120A>G | |
| NM_199161.4:c.*120A>G | NP_954630.1:n.*120A>G |