Linked Data
ClinVar Variation Id:
468837
dbSNP Id:
rs912174567
gnomAD v2:
11-22291922-T-C
gnomAD v3:
11-22270376-T-C
gnomAD v4:
11-22270376-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22270376T>C , CM000673.2:g.22270376T>C | GRCh38 |
| NC_000011.9:g.22291922T>C , CM000673.1:g.22291922T>C | GRCh37 |
| NC_000011.8:g.22248498T>C | NCBI36 |
| NG_015844.1:g.82201T>C , LRG_868:g.82201T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682266.1:c.1513T>C | ENSP00000507766.1:p.Trp505Arg | |
| ENST00000682341.1:c.1921T>C | ENSP00000508251.1:p.Trp641Arg | |
| ENST00000683197.1:c.1921T>C | ENSP00000507641.1:p.Trp641Arg | |
| ENST00000683411.1:c.1513T>C | ENSP00000508397.1:p.Trp505Arg | |
| ENST00000683437.1:c.1513T>C | ENSP00000508408.1:p.Trp505Arg | |
| ENST00000683613.1:n.2957T>C | ||
| ENST00000684663.1:c.1918T>C | ENSP00000508009.1:p.Trp640Arg | |
| ENST00000324559.9:c.1963T>C MANE Select | ENSP00000315371.9:p.Trp655Arg | |
| ENST00000648804.1:n.2298T>C | ||
| ENST00000324559.8:c.1963T>C | ENSP00000315371.8:p.Trp655Arg | |
| NM_001142649.1:c.1960T>C | NP_001136121.1:p.Trp654Arg | |
| NM_213599.2:c.1963T>C , LRG_868t1:c.1963T>C | NP_998764.1:p.Trp655Arg | |
| XM_005252820.2:c.1921T>C | XP_005252877.2:p.Trp641Arg | |
| XM_005252821.2:c.1918T>C | XP_005252878.2:p.Trp640Arg | |
| XM_005252822.3:c.1885T>C | XP_005252879.1:p.Trp629Arg | |
| XM_005252823.3:c.1882T>C | XP_005252880.1:p.Trp628Arg | |
| XM_011519949.1:c.1870T>C | XP_011518251.1:p.Trp624Arg | |
| XM_005252820.3:c.1921T>C | XP_005252877.2:p.Trp641Arg | |
| XM_005252821.3:c.1918T>C | XP_005252878.2:p.Trp640Arg | |
| XM_005252822.4:c.1885T>C | XP_005252879.1:p.Trp629Arg | |
| XM_011519949.2:c.1870T>C | XP_011518251.1:p.Trp624Arg | |
| NM_001142649.2:c.1960T>C | NP_001136121.1:p.Trp654Arg | |
| NM_213599.3:c.1963T>C MANE Select | NP_998764.1:p.Trp655Arg |