Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4780817G>A , CM000679.2:g.4780817G>A | GRCh38 |
| NC_000017.10:g.4684112G>A , CM000679.1:g.4684112G>A | GRCh37 |
| NC_000017.9:g.4630861G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003963.3:c.206G>A MANE Select | NP_003954.2:p.Arg69Gln |
| ENST00000270560.4:c.206G>A MANE Select | ENSP00000270560.3:p.Arg69Gln |
| NM_003963.2:c.206G>A | NP_003954.2:p.Arg69Gln |
| ENST00000270560.3:c.206G>A | ENSP00000270560.3:p.Arg69Gln |
| ENST00000576530.2:n.245G>A |