Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95305261G>C , CM000669.2:g.95305261G>C | GRCh38 |
| NC_000007.13:g.94934573G>C , CM000669.1:g.94934573G>C | GRCh37 |
| NC_000007.12:g.94772509G>C | NCBI36 |
| NG_008779.1:g.24312C>G | |
| NG_008779.2:g.24446C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222381.8:c.780+1024C>G MANE Select | ENSP00000222381.3:n.780+1024C>G | |
| ENST00000222381.7:c.780+1024C>G | ENSP00000222381.3:n.780+1024C>G | |
| ENST00000433729.1:c.*505+1024C>G | ENSP00000407359.1:n.*505+1024C>G | |
| NM_000446.5:c.780+1024C>G | NP_000437.3:n.780+1024C>G | |
| NM_000446.6:c.780+1024C>G | NP_000437.3:n.780+1024C>G | |
| NM_000446.7:c.780+1024C>G MANE Select | NP_000437.3:n.780+1024C>G |