Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23573260G= , CM000684.2:g.23573260G= | GRCh38 |
| NC_000022.10:g.23915447G= , CM000684.1:g.23915447G= | GRCh37 |
| NC_000022.9:g.22245447G= | NCBI36 |
| NG_009791.1:g.12049C= , LRG_69:g.12049C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330377.3:c.*6C= MANE Select | ENSP00000329312.2:n.*6C= | |
| ENST00000249053.3:c.*277C= | ENSP00000249053.3:n.*277C= | |
| ENST00000330377.2:c.*6C= | ENSP00000329312.2:n.*6C= | |
| NM_020070.3:c.*6C= | NP_064455.1:n.*6C= | |
| NM_152855.2:c.*277C= | NP_690594.1:n.*277C= | |
| XM_011530169.1:c.*6C= | XP_011528471.1:n.*6C= | |
| XM_011530169.2:c.*6C= | XP_011528471.1:n.*6C= | |
| NM_020070.4:c.*6C= MANE Select | NP_064455.1:n.*6C= | |
| NM_001369906.1:c.*6C= | NP_001356835.1:n.*6C= | |
| NM_152855.3:c.*277C= | NP_690594.1:n.*277C= |