Linked Data
ClinVar Variation Id:
1394817
ClinVar RCV Id:
RCV001884896
dbSNP Id:
rs773842959
ExAC:
17:7127863 G / A
gnomAD v3:
17-7224544-G-A
gnomAD v4:
17-7224544-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224544G>A , CM000679.2:g.7224544G>A | GRCh38 |
| NC_000017.10:g.7127863G>A , CM000679.1:g.7127863G>A | GRCh37 |
| NC_000017.9:g.7068587G>A | NCBI36 |
| NG_007975.1:g.9711G>A | |
| NG_008391.2:g.507C>T | |
| NG_033038.1:g.15001C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1670G>A MANE Select | ENSP00000349297.5:p.Gly557Glu | |
| ENST00000322910.9:c.*1625G>A | ENSP00000325395.5:n.*1625G>A | |
| ENST00000350303.9:c.1604G>A | ENSP00000344152.5:p.Gly535Glu | |
| ENST00000356839.9:c.1670G>A | ENSP00000349297.5:p.Gly557Glu | |
| ENST00000542255.6:c.528G>A | ||
| ENST00000543245.6:c.1739G>A | ENSP00000438689.2:p.Gly580Glu | |
| ENST00000578319.5:n.251G>A | ||
| ENST00000578711.1:n.1040G>A | ||
| ENST00000578809.5:n.242G>A | ||
| ENST00000579391.1:n.274G>A | ||
| ENST00000579425.5:n.786G>A | ||
| ENST00000579546.1:c.405G>A | ||
| ENST00000582450.1:n.178G>A | ||
| ENST00000583074.5:n.291G>A | ||
| ENST00000583848.5:c.56G>A | ENSP00000466487.1:p.Gly19Glu | |
| ENST00000583850.5:n.441G>A | ||
| ENST00000583858.5:c.601G>A | ||
| ENST00000585203.6:n.861G>A | ||
| NM_000018.3:c.1670G>A | NP_000009.1:p.Gly557Glu | |
| NM_001033859.2:c.1604G>A | NP_001029031.1:p.Gly535Glu | |
| NM_001270447.1:c.1739G>A | NP_001257376.1:p.Gly580Glu | |
| NM_001270448.1:c.1442G>A | NP_001257377.1:p.Gly481Glu | |
| XM_006721516.2:c.1670G>A | XP_006721579.2:p.Gly557Glu | |
| XM_011523829.1:c.1568G>A | XP_011522131.1:p.Gly523Glu | |
| XM_011523830.1:c.1568G>A | XP_011522132.1:p.Gly523Glu | |
| XR_934021.1:n.1773G>A | ||
| XR_934022.1:n.1679G>A | ||
| XR_934023.1:n.1679G>A | ||
| XM_006721516.3:c.1670G>A | XP_006721579.2:p.Gly557Glu | |
| XM_011523829.2:c.1568G>A | XP_011522131.1:p.Gly523Glu | |
| XM_011523830.2:c.1568G>A | XP_011522132.1:p.Gly523Glu | |
| XM_024450741.1:c.1658G>A | XP_024306509.1:p.Gly553Glu | |
| XR_934021.2:n.1725G>A | ||
| XR_934022.2:n.1631G>A | ||
| XR_934023.2:n.1631G>A | ||
| NM_000018.4:c.1670G>A MANE Select | NP_000009.1:p.Gly557Glu | |
| NM_001033859.3:c.1604G>A | NP_001029031.1:p.Gly535Glu | |
| NM_001270447.2:c.1739G>A | NP_001257376.1:p.Gly580Glu | |
| NM_001270448.2:c.1442G>A | NP_001257377.1:p.Gly481Glu |