Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159321913G= , CM000667.2:g.159321913G= | GRCh38 |
| NC_000005.9:g.158748921G= , CM000667.1:g.158748921G= | GRCh37 |
| NC_000005.8:g.158681499G= | NCBI36 |
| NG_009618.1:g.13561C= , LRG_71:g.13561C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.-148-1393C= | ENSP00000512849.1:n.-148-1393C= | |
| ENST00000696751.1:c.364+1141C= | ENSP00000512850.1:n.364+1141C= | |
| ENST00000231228.3:c.482+481C= MANE Select | ENSP00000231228.2:n.482+481C= | |
| ENST00000231228.2:c.482+481C= | ENSP00000231228.2:n.482+481C= | |
| NM_002187.2:c.482+481C= , LRG_71t1:c.482+481C= | NP_002178.2:n.482+481C= | |
| XR_001742945.1:n.147+1317G= | ||
| NM_002187.3:c.482+481C= MANE Select | NP_002178.2:n.482+481C= |