Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94042978G>C , CM000663.2:g.94042978G>C | GRCh38 |
| NC_000001.10:g.94508534G>C , CM000663.1:g.94508534G>C | GRCh37 |
| NC_000001.9:g.94281122G>C | NCBI36 |
| NG_009073.1:g.83172C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3191-80C>G MANE Select | ENSP00000359245.3:n.3191-80C>G | |
| ENST00000370225.3:c.3191-80C>G | ENSP00000359245.3:n.3191-80C>G | |
| ENST00000536513.5:c.-64-2889C>G | ENSP00000439707.2:n.-64-2889C>G | |
| NM_000350.2:c.3191-80C>G | NP_000341.2:n.3191-80C>G | |
| NM_000350.3:c.3191-80C>G MANE Select | NP_000341.2:n.3191-80C>G |