Linked Data
ClinVar Variation Id:
325094
dbSNP Id:
rs151332020
ExAC:
17:73519845 G / A
gnomAD v2:
17-73519845-G-A
gnomAD v3:
17-75523764-G-A
gnomAD v4:
17-75523764-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75523764G>A , CM000679.2:g.75523764G>A | GRCh38 |
| NC_000017.10:g.73519845G>A , CM000679.1:g.73519845G>A | GRCh37 |
| NC_000017.9:g.71031440G>A | NCBI36 |
| NG_013041.1:g.12237G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333213.11:c.1415G>A MANE Select | ENSP00000327487.6:p.Arg472Gln | |
| ENST00000434205.8:c.1112G>A | ENSP00000406559.4:p.Arg371Gln | |
| ENST00000545228.3:c.1603G>A | ENSP00000438169.3:p.Gly535Arg | |
| ENST00000577197.2:n.613G>A | ||
| ENST00000579449.2:n.2155G>A | ||
| ENST00000580013.6:n.2559G>A | ||
| ENST00000679370.1:n.2937G>A | ||
| ENST00000679429.1:c.*873G>A | ENSP00000505403.1:n.*873G>A | |
| ENST00000679443.1:n.1484G>A | ||
| ENST00000679782.1:c.*114G>A | ENSP00000505995.1:n.*114G>A | |
| ENST00000679919.1:n.1686G>A | ||
| ENST00000679928.1:c.*1967G>A | ENSP00000506071.1:n.*1967G>A | |
| ENST00000680528.1:n.2381G>A | ||
| ENST00000680999.1:c.1628G>A | ENSP00000504984.1:p.Arg543Gln | |
| ENST00000681282.1:c.*1602G>A | ENSP00000506339.1:n.*1602G>A | |
| ENST00000333213.10:c.1415G>A | ENSP00000327487.6:p.Arg472Gln | |
| ENST00000545228.2:c.692G>A | ||
| ENST00000577197.1:n.163G>A | ||
| ENST00000579449.1:n.612G>A | ||
| NM_207346.2:c.1415G>A | NP_997229.2:p.Arg472Gln | |
| XM_005257229.2:c.1603G>A | XP_005257286.1:p.Gly535Arg | |
| XM_006721821.2:c.1300G>A | XP_006721884.1:p.Gly434Arg | |
| XM_011524616.1:c.1501+429G>A | XP_011522918.1:n.1501+429G>A | |
| XM_011524617.1:c.*12+429G>A | XP_011522919.1:n.*12+429G>A | |
| XM_011524618.1:c.1313+429G>A | XP_011522920.1:n.1313+429G>A | |
| XR_243646.2:n.1647G>A | ||
| XM_005257229.4:c.1603G>A | XP_005257286.1:p.Gly535Arg | |
| XR_001753015.1:n.88-396C>T | ||
| XR_001753016.1:n.89-360C>T | ||
| XR_243646.4:n.1653G>A | ||
| NM_207346.3:c.1415G>A MANE Select | NP_997229.2:p.Arg472Gln |