Linked Data
ClinVar Variation Id:
21015
dbSNP Id:
rs2230178
ExAC:
17:7123506 G / A
gnomAD v2:
17-7123506-G-A
gnomAD v3:
17-7220187-G-A
gnomAD v4:
17-7220187-G-A
PubMed:
PMID:20301763
ERepo:
CA341517/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7220187G>A , CM000679.2:g.7220187G>A | GRCh38 |
| NC_000017.10:g.7123506G>A , CM000679.1:g.7123506G>A | GRCh37 |
| NC_000017.9:g.7064230G>A | NCBI36 |
| NG_007975.1:g.5354G>A | |
| NG_008391.2:g.4864C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.128G>A MANE Select | ENSP00000349297.5:p.Gly43Asp | |
| ENST00000322910.9:c.*83G>A | ENSP00000325395.5:n.*83G>A | |
| ENST00000350303.9:c.128G>A | ENSP00000344152.5:p.Gly43Asp | |
| ENST00000356839.9:c.128G>A | ENSP00000349297.5:p.Gly43Asp | |
| ENST00000543245.6:c.197G>A | ENSP00000438689.2:p.Gly66Asp | |
| ENST00000577191.5:n.205G>A | ||
| ENST00000577857.5:n.218G>A | ||
| ENST00000578269.5:n.235G>A | ||
| ENST00000578421.1:n.262G>A | ||
| ENST00000579286.5:n.235G>A | ||
| ENST00000579886.2:c.128G>A | ENSP00000463246.1:p.Gly43Asp | |
| ENST00000580263.5:n.218G>A | ||
| ENST00000581562.5:n.175G>A | ||
| ENST00000582056.5:n.218G>A | ||
| ENST00000582356.5:n.253G>A | ||
| ENST00000583312.5:c.128G>A | ENSP00000467920.1:p.Gly43Asp | |
| ENST00000584103.5:c.128G>A | ENSP00000465353.1:p.Gly43Asp | |
| NM_000018.3:c.128G>A | NP_000009.1:p.Gly43Asp | |
| NM_001033859.2:c.128G>A | NP_001029031.1:p.Gly43Asp | |
| NM_001270447.1:c.197G>A | NP_001257376.1:p.Gly66Asp | |
| NM_001270448.1:c.-101G>A | NP_001257377.1:n.-101G>A | |
| XM_006721516.2:c.128G>A | XP_006721579.2:p.Gly43Asp | |
| XM_011523829.1:c.128G>A | XP_011522131.1:p.Gly43Asp | |
| XM_011523830.1:c.128G>A | XP_011522132.1:p.Gly43Asp | |
| XR_934021.1:n.235G>A | ||
| XR_934022.1:n.235G>A | ||
| XR_934023.1:n.235G>A | ||
| XM_006721516.3:c.128G>A | XP_006721579.2:p.Gly43Asp | |
| XM_011523829.2:c.128G>A | XP_011522131.1:p.Gly43Asp | |
| XM_011523830.2:c.128G>A | XP_011522132.1:p.Gly43Asp | |
| XM_024450741.1:c.128G>A | XP_024306509.1:p.Gly43Asp | |
| XR_934021.2:n.187G>A | ||
| XR_934022.2:n.187G>A | ||
| XR_934023.2:n.187G>A | ||
| NM_000018.4:c.128G>A MANE Select | NP_000009.1:p.Gly43Asp | |
| NM_001033859.3:c.128G>A | NP_001029031.1:p.Gly43Asp | |
| NM_001270447.2:c.197G>A | NP_001257376.1:p.Gly66Asp | |
| NM_001270448.2:c.-101G>A | NP_001257377.1:n.-101G>A |