Linked Data
ClinVar Variation Id:
412804
dbSNP Id:
rs760146269
ExAC:
10:89717758 G / A
gnomAD v2:
10-89717758-G-A
gnomAD v3:
10-87958001-G-A
gnomAD v4:
10-87958001-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87958001G>A , CM000672.2:g.87958001G>A | GRCh38 |
| NC_000010.10:g.89717758G>A , CM000672.1:g.89717758G>A | GRCh37 |
| NC_000010.9:g.89707738G>A | NCBI36 |
| NG_007466.2:g.99563G>A , LRG_311:g.99563G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.783G>A | ENSP00000514759.2:p.Gln261= | |
| ENST00000710265.1:c.783G>A | ENSP00000518161.1:p.Gln261= | |
| ENST00000472832.3:c.783G>A | ENSP00000483066.2:p.Gln261= | |
| ENST00000688158.2:n.1518G>A | ||
| ENST00000688922.2:c.*613G>A | ENSP00000508742.2:n.*613G>A | |
| ENST00000700021.1:c.738G>A | ENSP00000514757.1:p.Gln246= | |
| ENST00000700022.1:c.*122G>A | ENSP00000514758.1:n.*122G>A | |
| ENST00000700023.1:n.1941G>A | ||
| ENST00000700024.1:n.2175G>A | ||
| ENST00000700025.1:n.1552G>A | ||
| ENST00000700026.1:n.420G>A | ||
| ENST00000700029.1:c.617G>A | ||
| ENST00000706954.1:c.783G>A | ENSP00000516674.1:p.Gln261= | |
| ENST00000706955.1:c.*818G>A | ENSP00000516675.1:n.*818G>A | |
| ENST00000686459.1:c.*369G>A | ENSP00000508909.1:n.*369G>A | |
| ENST00000688158.1:c.*894G>A | ENSP00000509254.1:n.*894G>A | |
| ENST00000688308.1:c.783G>A | ENSP00000508752.1:p.Gln261= | |
| ENST00000688922.1:c.704G>A | ||
| ENST00000693560.1:c.1302G>A | ENSP00000509861.1:p.Gln434= | |
| ENST00000371953.8:c.783G>A MANE Select | ENSP00000361021.3:p.Gln261= | |
| ENST00000371953.7:c.783G>A | ENSP00000361021.3:p.Gln261= | |
| ENST00000472832.2:c.210G>A | ENSP00000483066.1:p.Gln70= | |
| NM_000314.5:c.783G>A | NP_000305.3:p.Gln261= | |
| NM_000314.6:c.783G>A | NP_000305.3:p.Gln261= | |
| NM_001304717.2:c.1302G>A | NP_001291646.2:p.Gln434= | |
| NM_001304718.1:c.192G>A | NP_001291647.1:p.Gln64= | |
| XM_006717926.2:c.738G>A | XP_006717989.1:p.Gln246= | |
| XM_011539981.1:c.783G>A | XP_011538283.1:p.Gln261= | |
| XM_011539982.1:c.687G>A | XP_011538284.1:p.Gln229= | |
| XR_945791.1:n.1353G>A | ||
| NM_000314.7:c.783G>A | NP_000305.3:p.Gln261= | |
| NM_001304717.5:c.1302G>A | NP_001291646.4:p.Gln434= | |
| NM_001304718.2:c.192G>A | NP_001291647.1:p.Gln64= | |
| NM_000314.8:c.783G>A MANE Select | NP_000305.3:p.Gln261= |