Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6623837C>T , CM000673.2:g.6623837C>T | GRCh38 |
| NC_000011.9:g.6645068C>T , CM000673.1:g.6645068C>T | GRCh37 |
| NC_000011.8:g.6601644C>T | NCBI36 |
| NG_008653.1:g.625G>A | |
| NG_033858.1:g.37013G>A | |
| NG_033858.2:g.37013G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003737.4:c.7839G>A MANE Select | NP_003728.1:p.Glu2613= |
| ENST00000299441.5:c.7839G>A MANE Select | ENSP00000299441.3:p.Glu2613= |
| NM_003737.3:c.7839G>A | NP_003728.1:p.Glu2613= |
| ENST00000299441.4:c.7839G>A | ENSP00000299441.3:p.Glu2613= |