Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6622531C>G , CM000673.2:g.6622531C>G | GRCh38 |
| NC_000011.9:g.6643762C>G , CM000673.1:g.6643762C>G | GRCh37 |
| NC_000011.8:g.6600338C>G | NCBI36 |
| NG_008653.1:g.1931G>C | |
| NG_033858.1:g.38319G>C | |
| NG_033858.2:g.38319G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003737.4:c.9145G>C MANE Select | NP_003728.1:p.Glu3049Gln |
| ENST00000299441.5:c.9145G>C MANE Select | ENSP00000299441.3:p.Glu3049Gln |
| NM_003737.3:c.9145G>C | NP_003728.1:p.Glu3049Gln |
| ENST00000299441.4:c.9145G>C | ENSP00000299441.3:p.Glu3049Gln |