Linked Data
ClinVar Variation Id:
523571
dbSNP Id:
rs760137559
ExAC:
11:22291924 G / C
gnomAD v2:
11-22291924-G-C
gnomAD v3:
11-22270378-G-C
gnomAD v4:
11-22270378-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22270378G>C , CM000673.2:g.22270378G>C | GRCh38 |
| NC_000011.9:g.22291924G>C , CM000673.1:g.22291924G>C | GRCh37 |
| NC_000011.8:g.22248500G>C | NCBI36 |
| NG_015844.1:g.82203G>C , LRG_868:g.82203G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682266.1:c.1515G>C | ENSP00000507766.1:p.Trp505Cys | |
| ENST00000682341.1:c.1923G>C | ENSP00000508251.1:p.Trp641Cys | |
| ENST00000683197.1:c.1923G>C | ENSP00000507641.1:p.Trp641Cys | |
| ENST00000683411.1:c.1515G>C | ENSP00000508397.1:p.Trp505Cys | |
| ENST00000683437.1:c.1515G>C | ENSP00000508408.1:p.Trp505Cys | |
| ENST00000683613.1:n.2959G>C | ||
| ENST00000684663.1:c.1920G>C | ENSP00000508009.1:p.Trp640Cys | |
| ENST00000324559.9:c.1965G>C MANE Select | ENSP00000315371.9:p.Trp655Cys | |
| ENST00000648804.1:n.2300G>C | ||
| ENST00000324559.8:c.1965G>C | ENSP00000315371.8:p.Trp655Cys | |
| NM_001142649.1:c.1962G>C | NP_001136121.1:p.Trp654Cys | |
| NM_213599.2:c.1965G>C , LRG_868t1:c.1965G>C | NP_998764.1:p.Trp655Cys | |
| XM_005252820.2:c.1923G>C | XP_005252877.2:p.Trp641Cys | |
| XM_005252821.2:c.1920G>C | XP_005252878.2:p.Trp640Cys | |
| XM_005252822.3:c.1887G>C | XP_005252879.1:p.Trp629Cys | |
| XM_005252823.3:c.1884G>C | XP_005252880.1:p.Trp628Cys | |
| XM_011519949.1:c.1872G>C | XP_011518251.1:p.Trp624Cys | |
| XM_005252820.3:c.1923G>C | XP_005252877.2:p.Trp641Cys | |
| XM_005252821.3:c.1920G>C | XP_005252878.2:p.Trp640Cys | |
| XM_005252822.4:c.1887G>C | XP_005252879.1:p.Trp629Cys | |
| XM_011519949.2:c.1872G>C | XP_011518251.1:p.Trp624Cys | |
| NM_001142649.2:c.1962G>C | NP_001136121.1:p.Trp654Cys | |
| NM_213599.3:c.1965G>C MANE Select | NP_998764.1:p.Trp655Cys |