Linked Data
ClinVar Variation Id:
430818
dbSNP Id:
rs940325244
gnomAD v4:
11-118474178-G-T
PubMed:
PMID:29255178
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118474178G>T , CM000673.2:g.118474178G>T | GRCh38 |
| NC_000011.9:g.118344893G>T , CM000673.1:g.118344893G>T | GRCh37 |
| NC_000011.8:g.117850103G>T | NCBI36 |
| NG_027813.1:g.42689G>T , LRG_613:g.42689G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531904.7:c.3118G>T | ENSP00000432391.3:p.Gly1040Cys | |
| ENST00000710560.1:c.3118G>T | ENSP00000518343.1:p.Gly1040Cys | |
| ENST00000527869.7:c.602-1G>T | ENSP00000432652.3:n.602-1G>T | |
| ENST00000533790.3:c.503-1G>T | ENSP00000436700.3:n.503-1G>T | |
| ENST00000649690.2:c.827-1G>T | ENSP00000497372.2:n.827-1G>T | |
| ENST00000691053.1:c.3019G>T | ENSP00000509168.1:p.Gly1007Cys | |
| ENST00000389506.10:c.3019G>T | ENSP00000374157.5:p.Gly1007Cys | |
| ENST00000533790.2:c.272-1G>T | ENSP00000436700.2:n.272-1G>T | |
| ENST00000534358.8:c.3019G>T MANE Select | ENSP00000436786.2:p.Gly1007Cys | |
| ENST00000648261.1:c.1789G>T | ENSP00000498126.1:p.Gly597Cys | |
| ENST00000649690.1:c.413-1G>T | ENSP00000497372.1:n.413-1G>T | |
| ENST00000649699.1:c.3019G>T | ENSP00000496927.1:p.Gly1007Cys | |
| ENST00000389506.9:c.3019G>T | ENSP00000374157.5:p.Gly1007Cys | |
| ENST00000527869.6:c.353-1G>T | ENSP00000432652.2:n.353-1G>T | |
| ENST00000531904.6:c.3118G>T | ENSP00000432391.2:p.Gly1040Cys | |
| ENST00000533790.1:c.254-1G>T | ENSP00000436700.1:n.254-1G>T | |
| ENST00000534358.5:c.3019G>T | ENSP00000436786.1:p.Gly1007Cys | |
| NM_001197104.1:c.3019G>T , LRG_613t1:c.3019G>T | NP_001184033.1:p.Gly1007Cys | |
| NM_005933.3:c.3019G>T | NP_005924.2:p.Gly1007Cys | |
| XM_006718839.2:c.503-1G>T | XP_006718902.2:n.503-1G>T | |
| XM_011542829.1:c.3118G>T | XP_011541131.1:p.Gly1040Cys | |
| XM_011542830.1:c.3118G>T | XP_011541132.1:p.Gly1040Cys | |
| XM_011542831.1:c.3118G>T | XP_011541133.1:p.Gly1040Cys | |
| XM_011542832.1:c.926-1G>T | XP_011541134.1:n.926-1G>T | |
| XM_011542833.1:c.602-1G>T | XP_011541135.1:n.602-1G>T | |
| XM_006718839.3:c.503-1G>T | XP_006718902.2:n.503-1G>T | |
| XM_011542829.2:c.3118G>T | XP_011541131.1:p.Gly1040Cys | |
| XM_011542830.2:c.3118G>T | XP_011541132.1:p.Gly1040Cys | |
| XM_011542831.2:c.3118G>T | XP_011541133.1:p.Gly1040Cys | |
| XM_011542833.2:c.602-1G>T | XP_011541135.1:n.602-1G>T | |
| NM_001197104.2:c.3019G>T MANE Select | NP_001184033.1:p.Gly1007Cys | |
| NM_005933.4:c.3019G>T | NP_005924.2:p.Gly1007Cys |