Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665813C= , CM000679.2:g.39665813C= | GRCh38 |
| NC_000017.10:g.37822066C= , CM000679.1:g.37822066C= | GRCh37 |
| NC_000017.9:g.35075592C= | NCBI36 |
| NG_008892.1:g.5468C= , LRG_210:g.5468C= | |
| NG_042278.1:g.2833C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.208C= MANE Select | ENSP00000312624.2:p.Arg70= | |
| ENST00000309889.2:c.208C= | ENSP00000312624.2:p.Arg70= | |
| ENST00000578283.1:c.174+34C= | ENSP00000462787.1:n.174+34C= | |
| NM_003673.3:c.208C= , LRG_210t1:c.208C= | NP_003664.1:p.Arg70= | |
| NM_003673.4:c.208C= MANE Select | NP_003664.1:p.Arg70= |