Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6623196C>G , CM000673.2:g.6623196C>G | GRCh38 |
| NC_000011.9:g.6644427C>G , CM000673.1:g.6644427C>G | GRCh37 |
| NC_000011.8:g.6601003C>G | NCBI36 |
| NG_008653.1:g.1266G>C | |
| NG_033858.1:g.37654G>C | |
| NG_033858.2:g.37654G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003737.4:c.8480G>C MANE Select | NP_003728.1:p.Arg2827Pro |
| ENST00000299441.5:c.8480G>C MANE Select | ENSP00000299441.3:p.Arg2827Pro |
| NM_003737.3:c.8480G>C | NP_003728.1:p.Arg2827Pro |
| ENST00000299441.4:c.8480G>C | ENSP00000299441.3:p.Arg2827Pro |