Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.119871868C>G , CM000685.2:g.119871868C>G | GRCh38 |
| NC_000023.10:g.119005831C>G , CM000685.1:g.119005831C>G | GRCh37 |
| NC_000023.9:g.118889859C>G | NCBI36 |
| NG_009381.1:g.5098C>G | |
| NG_021227.1:g.4961G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004541.4:c.-44C>G MANE Select | NP_004532.1:n.-44C>G |
| ENST00000371437.5:c.-44C>G MANE Select | ENSP00000360492.4:n.-44C>G |
| NM_004541.3:c.-44C>G | NP_004532.1:n.-44C>G |
| ENST00000371437.4:c.-44C>G | ENSP00000360492.4:n.-44C>G |