Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52433784G>C , CM000674.2:g.52433784G>C | GRCh38 |
| NC_000012.11:g.52827568G>C , CM000674.1:g.52827568G>C | GRCh37 |
| NC_000012.10:g.51113835G>C | NCBI36 |
| NG_008403.1:g.5543C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252245.6:c.498+23C>G MANE Select | ENSP00000252245.5:n.498+23C>G | |
| ENST00000252245.5:c.498+23C>G | ENSP00000252245.5:n.498+23C>G | |
| NM_004693.2:c.498+23C>G | NP_004684.2:n.498+23C>G | |
| NM_004693.3:c.498+23C>G MANE Select | NP_004684.2:n.498+23C>G |