Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82727479C>T , CM000679.2:g.82727479C>T | GRCh38 |
| NC_000017.10:g.80685355C>T , CM000679.1:g.80685355C>T | GRCh37 |
| NC_000017.9:g.78278644C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269373.11:c.*308C>T MANE Select | ENSP00000269373.6:n.*308C>T | |
| ENST00000269373.10:c.*308C>T | ENSP00000269373.6:n.*308C>T | |
| ENST00000571594.1:c.53+312C>T | ENSP00000459751.1:n.53+312C>T | |
| ENST00000574832.5:c.*1195C>T | ENSP00000460869.1:n.*1195C>T | |
| NM_024619.3:c.*308C>T | NP_078895.2:n.*308C>T | |
| NR_046408.1:n.1416C>T | ||
| XM_024450948.1:c.*308C>T | XP_024306716.1:n.*308C>T | |
| NM_024619.4:c.*308C>T MANE Select | NP_078895.2:n.*308C>T | |
| NR_046408.2:n.1416C>T |