Linked Data
dbSNP Id:
rs759614498
gnomAD v2:
17-7125902-G-A
gnomAD v3:
17-7222583-G-A
gnomAD v4:
17-7222583-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222583G>A , CM000679.2:g.7222583G>A | GRCh38 |
| NC_000017.10:g.7125902G>A , CM000679.1:g.7125902G>A | GRCh37 |
| NC_000017.9:g.7066626G>A | NCBI36 |
| NG_007975.1:g.7750G>A | |
| NG_008391.2:g.2468C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.879-84G>A MANE Select | ENSP00000349297.5:n.879-84G>A | |
| ENST00000322910.9:c.*834-84G>A | ENSP00000325395.5:n.*834-84G>A | |
| ENST00000350303.9:c.813-84G>A | ENSP00000344152.5:n.813-84G>A | |
| ENST00000356839.9:c.879-84G>A | ENSP00000349297.5:n.879-84G>A | |
| ENST00000543245.6:c.948-84G>A | ENSP00000438689.2:n.948-84G>A | |
| ENST00000581378.5:c.597-84G>A | ||
| ENST00000582379.1:n.263-84G>A | ||
| NM_000018.3:c.879-84G>A | NP_000009.1:n.879-84G>A | |
| NM_001033859.2:c.813-84G>A | NP_001029031.1:n.813-84G>A | |
| NM_001270447.1:c.948-84G>A | NP_001257376.1:n.948-84G>A | |
| NM_001270448.1:c.651-84G>A | NP_001257377.1:n.651-84G>A | |
| XM_006721516.2:c.879-84G>A | XP_006721579.2:n.879-84G>A | |
| XM_011523829.1:c.879-84G>A | XP_011522131.1:n.879-84G>A | |
| XM_011523830.1:c.879-84G>A | XP_011522132.1:n.879-84G>A | |
| XR_934021.1:n.986-84G>A | ||
| XR_934022.1:n.986-84G>A | ||
| XR_934023.1:n.986-84G>A | ||
| XM_006721516.3:c.879-84G>A | XP_006721579.2:n.879-84G>A | |
| XM_011523829.2:c.879-84G>A | XP_011522131.1:n.879-84G>A | |
| XM_011523830.2:c.879-84G>A | XP_011522132.1:n.879-84G>A | |
| XM_024450741.1:c.879-84G>A | XP_024306509.1:n.879-84G>A | |
| XR_934021.2:n.938-84G>A | ||
| XR_934022.2:n.938-84G>A | ||
| XR_934023.2:n.938-84G>A | ||
| NM_000018.4:c.879-84G>A MANE Select | NP_000009.1:n.879-84G>A | |
| NM_001033859.3:c.813-84G>A | NP_001029031.1:n.813-84G>A | |
| NM_001270447.2:c.948-84G>A | NP_001257376.1:n.948-84G>A | |
| NM_001270448.2:c.651-84G>A | NP_001257377.1:n.651-84G>A |