Linked Data
ClinVar Variation Id:
1661982
ClinVar RCV Id:
RCV002193349
dbSNP Id:
rs151212777
ExAC:
10:60562980 G / A
gnomAD v2:
10-60562980-G-A
gnomAD v3:
10-58803220-G-A
gnomAD v4:
10-58803220-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.58803220G>A , CM000672.2:g.58803220G>A | GRCh38 |
| NC_000010.10:g.60562980G>A , CM000672.1:g.60562980G>A | GRCh37 |
| NC_000010.9:g.60232986G>A | NCBI36 |
| NG_029759.2:g.295077G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373886.8:c.2159G>A MANE Select | ENSP00000362993.3:p.Arg720Gln | |
| ENST00000263103.1:c.1037G>A | ENSP00000263103.1:p.Arg346Gln | |
| ENST00000373886.7:c.2159G>A | ENSP00000362993.3:p.Arg720Gln | |
| NM_001080512.2:c.2159G>A | NP_001073981.1:p.Arg720Gln | |
| XM_005270169.3:c.2018G>A | XP_005270226.1:p.Arg673Gln | |
| XM_011540185.1:c.2231G>A | XP_011538487.1:p.Arg744Gln | |
| XM_011540186.1:c.2228G>A | XP_011538488.1:p.Arg743Gln | |
| XM_011540187.1:c.2231G>A | XP_011538489.1:p.Arg744Gln | |
| XM_011540188.1:c.2015G>A | XP_011538490.1:p.Arg672Gln | |
| XM_011540189.1:c.2003G>A | XP_011538491.1:p.Arg668Gln | |
| XM_011540190.1:c.1919G>A | XP_011538492.1:p.Arg640Gln | |
| XM_011540191.1:c.1775G>A | XP_011538493.1:p.Arg592Gln | |
| XM_005270169.5:c.2018G>A | XP_005270226.1:p.Arg673Gln | |
| XM_011540185.2:c.2231G>A | XP_011538487.1:p.Arg744Gln | |
| XM_011540190.3:c.1919G>A | XP_011538492.1:p.Arg640Gln | |
| XM_011540191.2:c.1775G>A | XP_011538493.1:p.Arg592Gln | |
| XM_017016677.1:c.2027G>A | XP_016872166.1:p.Arg676Gln | |
| XM_017016678.1:c.2015G>A | XP_016872167.1:p.Arg672Gln | |
| XM_024448174.1:c.2246G>A | XP_024303942.1:p.Arg749Gln | |
| XM_024448175.1:c.1919G>A | XP_024303943.1:p.Arg640Gln | |
| NM_001080512.3:c.2159G>A MANE Select | NP_001073981.1:p.Arg720Gln |