Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23393263C>T , CM000678.2:g.23393263C>T | GRCh38 |
| NC_000016.9:g.23404584C>T , CM000678.1:g.23404584C>T | GRCh37 |
| NC_000016.8:g.23312085C>T | NCBI36 |
| NG_021287.1:g.64929G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_153603.4:c.1972G>A MANE Select | NP_705831.1:p.Ala658Thr |
| ENST00000307149.10:c.1972G>A MANE Select | ENSP00000305442.5:p.Ala658Thr |
| NM_153603.3:c.1972G>A | NP_705831.1:p.Ala658Thr |
| ENST00000307149.9:c.1972G>A | ENSP00000305442.5:p.Ala658Thr |
| ENST00000561854.1:c.56G>A | |
| ENST00000563164.1:c.30G>A | |
| ENST00000566364.1:n.319G>A | |
| ENST00000569635.1:n.59+1625G>A | |
| XM_017023870.1:c.1777G>A | XP_016879359.1:p.Ala593Thr |
| XR_002957852.1:n.2193G>A | |
| XR_429680.1:n.2188G>A | |
| XR_429680.2:n.2193G>A |