Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100646695G>C , CM000669.2:g.100646695G>C | GRCh38 |
| NC_000007.13:g.100244318G>C , CM000669.1:g.100244318G>C | GRCh37 |
| NC_000007.12:g.100082254G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000160382.10:c.1018-49C>G MANE Select | ENSP00000160382.5:n.1018-49C>G | |
| ENST00000160382.9:c.1018-49C>G | ENSP00000160382.5:n.1018-49C>G | |
| ENST00000487125.1:n.580-49C>G | ||
| NM_016188.4:c.1018-49C>G | NP_057272.1:n.1018-49C>G | |
| XR_927476.1:n.1125-49C>G | ||
| NR_134539.1:n.1125-49C>G | ||
| NM_016188.5:c.1018-49C>G MANE Select | NP_057272.1:n.1018-49C>G | |
| NR_134539.2:n.1112-49C>G |