Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46311057G>A , CM000673.2:g.46311057G>A | GRCh38 |
| NC_000011.9:g.46332608G>A , CM000673.1:g.46332608G>A | GRCh37 |
| NC_000011.8:g.46289184G>A | NCBI36 |
| NG_033264.1:g.38420G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000621158.5:c.621G>A MANE Select | ENSP00000481956.1:p.Thr207= | |
| ENST00000527342.1:n.144G>A | ||
| ENST00000621158.4:c.621G>A | ENSP00000481956.1:p.Thr207= | |
| NM_052854.3:c.621G>A | NP_443086.1:p.Thr207= | |
| XM_006718380.2:c.621G>A | XP_006718443.1:p.Thr207= | |
| XM_006718380.3:c.621G>A | XP_006718443.1:p.Thr207= | |
| NM_052854.4:c.621G>A MANE Select | NP_443086.1:p.Thr207= |