Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.161423548C>G , CM000664.2:g.161423548C>G | GRCh38 |
| NC_000002.11:g.162280059C>G , CM000664.1:g.162280059C>G | GRCh37 |
| NC_000002.10:g.161988305C>G | NCBI36 |
| NG_046904.1:g.12440C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006593.4:c.1370C>G MANE Select | NP_006584.1:p.Thr457Arg |
| ENST00000389554.8:c.1370C>G MANE Select | ENSP00000374205.3:p.Thr457Arg |
| NM_006593.2:c.1370C>G | NP_006584.1:p.Thr457Arg |
| NM_006593.3:c.1370C>G | NP_006584.1:p.Thr457Arg |
| ENST00000389554.7:c.1370C>G | ENSP00000374205.3:p.Thr457Arg |
| ENST00000410035.1:c.509C>G | ENSP00000387023.1:p.Thr170Arg |
| ENST00000411412.5:c.514-44C>G | ENSP00000393934.1:n.514-44C>G |
| ENST00000463544.1:n.6848C>G | |
| ENST00000477804.5:n.324C>G |