Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94852802A>G , CM000672.2:g.94852802A>G | GRCh38 |
| NC_000010.10:g.96612559A>G , CM000672.1:g.96612559A>G | GRCh37 |
| NC_000010.9:g.96602549A>G | NCBI36 |
| NG_008384.2:g.95097A>G | |
| NG_008384.3:g.95122A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.1361A>G MANE Select | ENSP00000360372.3:p.Gln454Arg | |
| ENST00000645461.1:n.2272A>G | ||
| ENST00000371321.7:c.1361A>G | ENSP00000360372.3:p.Gln454Arg | |
| ENST00000464755.1:c.2124A>G | ENSP00000483243.1:n.2124A>G | |
| NM_000769.2:c.1361A>G | NP_000760.1:p.Gln454Arg | |
| NM_000769.4:c.1361A>G MANE Select | NP_000760.1:p.Gln454Arg |