Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43551633G>C , CM000681.2:g.43551633G>C | GRCh38 |
| NC_000019.9:g.44055785G>C , CM000681.1:g.44055785G>C | GRCh37 |
| NC_000019.8:g.48747625G>C | NCBI36 |
| NG_033799.1:g.28946C>G , LRG_784:g.28946C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262887.10:c.1137C>G MANE Select | ENSP00000262887.5:p.Arg379= | |
| ENST00000262887.9:c.1137C>G | ENSP00000262887.4:p.Arg379= | |
| ENST00000543982.5:c.1044C>G | ENSP00000443671.1:p.Arg348= | |
| ENST00000597811.5:c.747C>G | ||
| NM_006297.2:c.1137C>G , LRG_784t1:c.1137C>G | NP_006288.2:p.Arg379= | |
| NM_006297.3:c.1137C>G MANE Select | NP_006288.2:p.Arg379= |