Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70174845C>G , CM000679.2:g.70174845C>G | GRCh38 |
| NC_000017.10:g.68170986C>G , CM000679.1:g.68170986C>G | GRCh37 |
| NC_000017.9:g.65682581C>G | NCBI36 |
| NG_008798.1:g.10311C>G , LRG_328:g.10311C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000891.3:c.-195C>G MANE Select | NP_000882.1:n.-195C>G |
| ENST00000243457.4:c.-195C>G MANE Select | ENSP00000243457.2:n.-195C>G |
| NM_000891.2:c.-195C>G , LRG_328t1:c.-195C>G | NP_000882.1:n.-195C>G |
| ENST00000243457.3:c.-195C>G | ENSP00000243457.2:n.-195C>G |
| ENST00000535240.1:c.-195C>G | ENSP00000441848.1:n.-195C>G |
| XM_011524779.1:c.-195C>G | XP_011523081.1:n.-195C>G |