Linked Data
ClinVar Variation Id:
1990277
ClinVar RCV Id:
RCV002771252
dbSNP Id:
rs191894005
ExAC:
10:60566402 A / G
gnomAD v2:
10-60566402-A-G
gnomAD v3:
10-58806642-A-G
gnomAD v4:
10-58806642-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.58806642A>G , CM000672.2:g.58806642A>G | GRCh38 |
| NC_000010.10:g.60566402A>G , CM000672.1:g.60566402A>G | GRCh37 |
| NC_000010.9:g.60236408A>G | NCBI36 |
| NG_029759.2:g.298499A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373886.8:c.2221+19A>G MANE Select | ENSP00000362993.3:n.2221+19A>G | |
| ENST00000263103.1:c.1099+19A>G | ENSP00000263103.1:n.1099+19A>G | |
| ENST00000373886.7:c.2221+19A>G | ENSP00000362993.3:n.2221+19A>G | |
| NM_001080512.2:c.2221+19A>G | NP_001073981.1:n.2221+19A>G | |
| XM_005270169.3:c.2080+19A>G | XP_005270226.1:n.2080+19A>G | |
| XM_011540185.1:c.2293+19A>G | XP_011538487.1:n.2293+19A>G | |
| XM_011540186.1:c.2290+19A>G | XP_011538488.1:n.2290+19A>G | |
| XM_011540187.1:c.2293+19A>G | XP_011538489.1:n.2293+19A>G | |
| XM_011540188.1:c.2077+19A>G | XP_011538490.1:n.2077+19A>G | |
| XM_011540189.1:c.2065+19A>G | XP_011538491.1:n.2065+19A>G | |
| XM_011540190.1:c.1981+19A>G | XP_011538492.1:n.1981+19A>G | |
| XM_011540191.1:c.1837+19A>G | XP_011538493.1:n.1837+19A>G | |
| XM_005270169.5:c.2080+19A>G | XP_005270226.1:n.2080+19A>G | |
| XM_011540185.2:c.2293+19A>G | XP_011538487.1:n.2293+19A>G | |
| XM_011540190.3:c.1981+19A>G | XP_011538492.1:n.1981+19A>G | |
| XM_011540191.2:c.1837+19A>G | XP_011538493.1:n.1837+19A>G | |
| XM_017016677.1:c.2089+19A>G | XP_016872166.1:n.2089+19A>G | |
| XM_017016678.1:c.2077+19A>G | XP_016872167.1:n.2077+19A>G | |
| XM_024448174.1:c.2308+19A>G | XP_024303942.1:n.2308+19A>G | |
| XM_024448175.1:c.1981+19A>G | XP_024303943.1:n.1981+19A>G | |
| NM_001080512.3:c.2221+19A>G MANE Select | NP_001073981.1:n.2221+19A>G |