Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88691703A>G , CM000664.2:g.88691703A>G | GRCh38 |
| NC_000002.11:g.88991221A>G , CM000664.1:g.88991221A>G | GRCh37 |
| NC_000002.10:g.88772336A>G | NCBI36 |
| NG_016710.1:g.5046A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_144563.3:c.5A>G MANE Select | NP_653164.2:p.Gln2Arg |
| ENST00000283646.5:c.5A>G MANE Select | ENSP00000283646.3:p.Gln2Arg |
| NM_144563.2:c.5A>G | NP_653164.2:p.Gln2Arg |
| ENST00000283646.4:c.5A>G | ENSP00000283646.3:p.Gln2Arg |
| XR_939673.1:n.56A>G |