Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23392404C>T , CM000678.2:g.23392404C>T | GRCh38 |
| NC_000016.9:g.23403725C>T , CM000678.1:g.23403725C>T | GRCh37 |
| NC_000016.8:g.23311226C>T | NCBI36 |
| NG_021287.1:g.65788G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_153603.4:c.2122G>A MANE Select | NP_705831.1:p.Ala708Thr |
| ENST00000307149.10:c.2122G>A MANE Select | ENSP00000305442.5:p.Ala708Thr |
| NM_153603.3:c.2122G>A | NP_705831.1:p.Ala708Thr |
| ENST00000307149.9:c.2122G>A | ENSP00000305442.5:p.Ala708Thr |
| ENST00000561854.1:c.206G>A | |
| ENST00000563164.1:c.180G>A | |
| ENST00000566364.1:n.469G>A | |
| ENST00000569635.1:n.60-2120G>A | |
| XM_017023870.1:c.1927G>A | XP_016879359.1:p.Ala643Thr |
| XR_002957852.1:n.2343G>A | |
| XR_429680.1:n.2338G>A | |
| XR_429680.2:n.2343G>A |