Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70179531A>G , CM000679.2:g.70179531A>G | GRCh38 |
| NC_000017.10:g.68175672A>G , CM000679.1:g.68175672A>G | GRCh37 |
| NC_000017.9:g.65687267A>G | NCBI36 |
| NG_008798.1:g.14997A>G , LRG_328:g.14997A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000891.3:c.*3208A>G MANE Select | NP_000882.1:n.*3208A>G |
| ENST00000243457.4:c.*3208A>G MANE Select | ENSP00000243457.2:n.*3208A>G |
| NM_000891.2:c.*3208A>G , LRG_328t1:c.*3208A>G | NP_000882.1:n.*3208A>G |
| ENST00000243457.3:c.*3208A>G | ENSP00000243457.2:n.*3208A>G |