Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6626330G>A , CM000673.2:g.6626330G>A | GRCh38 |
| NC_000011.9:g.6647561G>A , CM000673.1:g.6647561G>A | GRCh37 |
| NC_000011.8:g.6604137G>A | NCBI36 |
| NG_033858.1:g.34520C>T | |
| NG_033858.2:g.34520C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003737.4:c.6415C>T MANE Select | NP_003728.1:p.Arg2139Trp |
| ENST00000299441.5:c.6415C>T MANE Select | ENSP00000299441.3:p.Arg2139Trp |
| NM_003737.3:c.6415C>T | NP_003728.1:p.Arg2139Trp |
| ENST00000299441.4:c.6415C>T | ENSP00000299441.3:p.Arg2139Trp |