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