Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.138117037A>G , CM000669.2:g.138117037A>G | GRCh38 |
| NC_000007.13:g.137801783A>G , CM000669.1:g.137801783A>G | GRCh37 |
| NC_000007.12:g.137452323A>G | NCBI36 |
| NG_023342.1:g.45606A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005989.4:c.*375A>G MANE Select | NP_005980.1:n.*375A>G |
| ENST00000242375.8:c.*375A>G MANE Select | ENSP00000242375.3:n.*375A>G |
| NM_001190906.1:c.*375A>G | NP_001177835.1:n.*375A>G |
| NM_001190906.2:c.*375A>G | NP_001177835.1:n.*375A>G |
| NM_001190907.1:c.*400A>G | NP_001177836.1:n.*400A>G |
| NM_001190907.2:c.*400A>G | NP_001177836.1:n.*400A>G |
| NM_005989.3:c.*375A>G | NP_005980.1:n.*375A>G |
| ENST00000242375.7:c.*375A>G | ENSP00000242375.3:n.*375A>G |
| ENST00000411726.6:c.*375A>G | ENSP00000402374.2:n.*375A>G |