Linked Data
dbSNP Id:
rs771624063
ExAC:
17:7125563 G / A
gnomAD v2:
17-7125563-G-A
gnomAD v4:
17-7222244-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222244G>A , CM000679.2:g.7222244G>A | GRCh38 |
| NC_000017.10:g.7125563G>A , CM000679.1:g.7125563G>A | GRCh37 |
| NC_000017.9:g.7066287G>A | NCBI36 |
| NG_007975.1:g.7411G>A | |
| NG_008391.2:g.2807C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.820G>A MANE Select | ENSP00000349297.5:p.Ala274Thr | |
| ENST00000322910.9:c.*775G>A | ENSP00000325395.5:n.*775G>A | |
| ENST00000350303.9:c.754G>A | ENSP00000344152.5:p.Ala252Thr | |
| ENST00000356839.9:c.820G>A | ENSP00000349297.5:p.Ala274Thr | |
| ENST00000543245.6:c.889G>A | ENSP00000438689.2:p.Ala297Thr | |
| ENST00000577191.5:n.992G>A | ||
| ENST00000581378.5:c.538G>A | ||
| ENST00000582379.1:n.204G>A | ||
| NM_000018.3:c.820G>A | NP_000009.1:p.Ala274Thr | |
| NM_001033859.2:c.754G>A | NP_001029031.1:p.Ala252Thr | |
| NM_001270447.1:c.889G>A | NP_001257376.1:p.Ala297Thr | |
| NM_001270448.1:c.592G>A | NP_001257377.1:p.Ala198Thr | |
| XM_006721516.2:c.820G>A | XP_006721579.2:p.Ala274Thr | |
| XM_011523829.1:c.820G>A | XP_011522131.1:p.Ala274Thr | |
| XM_011523830.1:c.820G>A | XP_011522132.1:p.Ala274Thr | |
| XR_934021.1:n.927G>A | ||
| XR_934022.1:n.927G>A | ||
| XR_934023.1:n.927G>A | ||
| XM_006721516.3:c.820G>A | XP_006721579.2:p.Ala274Thr | |
| XM_011523829.2:c.820G>A | XP_011522131.1:p.Ala274Thr | |
| XM_011523830.2:c.820G>A | XP_011522132.1:p.Ala274Thr | |
| XM_024450741.1:c.820G>A | XP_024306509.1:p.Ala274Thr | |
| XR_934021.2:n.879G>A | ||
| XR_934022.2:n.879G>A | ||
| XR_934023.2:n.879G>A | ||
| NM_000018.4:c.820G>A MANE Select | NP_000009.1:p.Ala274Thr | |
| NM_001033859.3:c.754G>A | NP_001029031.1:p.Ala252Thr | |
| NM_001270447.2:c.889G>A | NP_001257376.1:p.Ala297Thr | |
| NM_001270448.2:c.592G>A | NP_001257377.1:p.Ala198Thr |