Linked Data
ClinVar Variation Id:
203575
dbSNP Id:
rs200573371
ExAC:
17:7125988 G / A
gnomAD v2:
17-7125988-G-A
gnomAD v3:
17-7222669-G-A
gnomAD v4:
17-7222669-G-A
ERepo:
CA312257/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222669G>A , CM000679.2:g.7222669G>A | GRCh38 |
| NC_000017.10:g.7125988G>A , CM000679.1:g.7125988G>A | GRCh37 |
| NC_000017.9:g.7066712G>A | NCBI36 |
| NG_007975.1:g.7836G>A | |
| NG_008391.2:g.2382C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.881G>A MANE Select | ENSP00000349297.5:p.Gly294Glu | |
| ENST00000322910.9:c.*836G>A | ENSP00000325395.5:n.*836G>A | |
| ENST00000350303.9:c.815G>A | ENSP00000344152.5:p.Gly272Glu | |
| ENST00000356839.9:c.881G>A | ENSP00000349297.5:p.Gly294Glu | |
| ENST00000543245.6:c.950G>A | ENSP00000438689.2:p.Gly317Glu | |
| ENST00000578824.5:n.30G>A | ||
| ENST00000581378.5:c.599G>A | ||
| ENST00000582379.1:n.265G>A | ||
| NM_000018.3:c.881G>A | NP_000009.1:p.Gly294Glu | |
| NM_001033859.2:c.815G>A | NP_001029031.1:p.Gly272Glu | |
| NM_001270447.1:c.950G>A | NP_001257376.1:p.Gly317Glu | |
| NM_001270448.1:c.653G>A | NP_001257377.1:p.Gly218Glu | |
| XM_006721516.2:c.881G>A | XP_006721579.2:p.Gly294Glu | |
| XM_011523829.1:c.881G>A | XP_011522131.1:p.Gly294Glu | |
| XM_011523830.1:c.881G>A | XP_011522132.1:p.Gly294Glu | |
| XR_934021.1:n.988G>A | ||
| XR_934022.1:n.988G>A | ||
| XR_934023.1:n.988G>A | ||
| XM_006721516.3:c.881G>A | XP_006721579.2:p.Gly294Glu | |
| XM_011523829.2:c.881G>A | XP_011522131.1:p.Gly294Glu | |
| XM_011523830.2:c.881G>A | XP_011522132.1:p.Gly294Glu | |
| XM_024450741.1:c.881G>A | XP_024306509.1:p.Gly294Glu | |
| XR_934021.2:n.940G>A | ||
| XR_934022.2:n.940G>A | ||
| XR_934023.2:n.940G>A | ||
| NM_000018.4:c.881G>A MANE Select | NP_000009.1:p.Gly294Glu | |
| NM_001033859.3:c.815G>A | NP_001029031.1:p.Gly272Glu | |
| NM_001270447.2:c.950G>A | NP_001257376.1:p.Gly317Glu | |
| NM_001270448.2:c.653G>A | NP_001257377.1:p.Gly218Glu |