Linked Data
ClinVar Variation Id:
669763
ClinVar RCV Id:
RCV000828861
dbSNP Id:
rs2297489
gnomAD v2:
10-64575360-C-G
gnomAD v3:
10-62815600-C-G
gnomAD v4:
10-62815600-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.62815600C>G , CM000672.2:g.62815600C>G | GRCh38 |
| NC_000010.10:g.64575360C>G , CM000672.1:g.64575360C>G | GRCh37 |
| NC_000010.9:g.64245366C>G | NCBI36 |
| NG_008936.2:g.109301G>C , LRG_239:g.109301G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000411732.4:c.19+261G>C | ENSP00000387634.1:n.19+261G>C | |
| ENST00000439032.6:c.430G>C | ENSP00000509775.1:p.Gly144Arg | |
| ENST00000637191.2:c.169+261G>C | ENSP00000490154.2:n.169+261G>C | |
| ENST00000690143.1:c.*101+261G>C | ENSP00000510306.1:n.*101+261G>C | |
| ENST00000691610.1:c.208+261G>C | ENSP00000509830.1:n.208+261G>C | |
| ENST00000242480.4:c.169+261G>C MANE Select | ENSP00000242480.3:n.169+261G>C | |
| ENST00000411732.3:c.19+261G>C | ENSP00000387634.1:n.19+261G>C | |
| ENST00000637191.1:c.169+261G>C | ENSP00000490154.1:n.169+261G>C | |
| ENST00000639815.1:n.108+568G>C | ||
| ENST00000242480.3:c.169+261G>C | ENSP00000242480.3:n.169+261G>C | |
| ENST00000411732.2:c.19+261G>C | ENSP00000387634.1:n.19+261G>C | |
| ENST00000439032.4:c.169+261G>C | ENSP00000402040.1:n.169+261G>C | |
| ENST00000493899.2:n.650+261G>C | ||
| NM_000399.3:c.169+261G>C , LRG_239t1:c.169+261G>C | NP_000390.2:n.169+261G>C | |
| NM_001136177.1:c.169+261G>C | NP_001129649.1:n.169+261G>C | |
| NM_001136178.1:c.169+261G>C | NP_001129650.1:n.169+261G>C | |
| NM_001136179.1:c.19+261G>C | NP_001129651.1:n.19+261G>C | |
| XM_011539427.1:c.208+261G>C | XP_011537729.1:n.208+261G>C | |
| XM_011539428.1:c.19+261G>C | XP_011537730.1:n.19+261G>C | |
| XM_011539429.1:c.19+261G>C | XP_011537731.1:n.19+261G>C | |
| NM_000399.4:c.169+261G>C | NP_000390.2:n.169+261G>C | |
| NM_001136177.2:c.169+261G>C | NP_001129649.1:n.169+261G>C | |
| NM_001136179.2:c.19+261G>C | NP_001129651.1:n.19+261G>C | |
| NM_001321037.1:c.19+261G>C | NP_001307966.1:n.19+261G>C | |
| NM_000399.5:c.169+261G>C MANE Select | NP_000390.2:n.169+261G>C | |
| NM_001136177.3:c.169+261G>C | NP_001129649.1:n.169+261G>C | |
| NM_001136179.3:c.19+261G>C | NP_001129651.1:n.19+261G>C | |
| NM_001321037.2:c.19+261G>C | NP_001307966.1:n.19+261G>C | |
| NM_001136178.2:c.169+261G>C | NP_001129650.1:n.169+261G>C |