Linked Data
ClinVar Variation Id:
246590
dbSNP Id:
rs779065972
ExAC:
8:134251225 G / A
gnomAD v2:
8-134251225-G-A
gnomAD v3:
8-133238982-G-A
gnomAD v4:
8-133238982-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133238982G>A , CM000670.2:g.133238982G>A | GRCh38 |
| NC_000008.10:g.134251225G>A , CM000670.1:g.134251225G>A | GRCh37 |
| NC_000008.9:g.134320407G>A | NCBI36 |
| NG_007943.1:g.63274C>T , LRG_258:g.63274C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323851.13:c.1081C>T MANE Select | ENSP00000319977.8:p.Arg361Cys | |
| ENST00000537882.3:c.1081C>T | ENSP00000437443.2:p.Arg361Cys | |
| ENST00000323851.11:c.1081C>T | ENSP00000319977.7:p.Arg361Cys | |
| ENST00000414097.6:c.1081C>T | ENSP00000404854.2:p.Arg361Cys | |
| ENST00000517599.5:c.*687C>T | ENSP00000429172.1:n.*687C>T | |
| ENST00000518066.5:c.208C>T | ENSP00000431057.1:p.Arg70Cys | |
| ENST00000518176.5:c.322C>T | ENSP00000429007.1:p.Arg108Cys | |
| ENST00000519278.5:n.2177C>T | ||
| ENST00000521026.5:n.339C>T | ||
| ENST00000521414.5:n.543C>T | ||
| ENST00000521438.1:n.2456+90C>T | ||
| ENST00000522476.5:c.883C>T | ENSP00000427894.1:p.Arg295Cys | |
| ENST00000537882.2:c.838C>T | ENSP00000437443.1:p.Arg280Cys | |
| NM_001135242.1:c.1081C>T | NP_001128714.1:p.Arg361Cys | |
| NM_001258432.1:c.883C>T | NP_001245361.1:p.Arg295Cys | |
| NM_001258433.1:c.838C>T | NP_001245362.1:p.Arg280Cys | |
| NM_006096.3:c.1081C>T , LRG_258t1:c.1081C>T | NP_006087.2:p.Arg361Cys | |
| XM_011516791.1:c.1132C>T | XP_011515093.1:p.Arg378Cys | |
| XM_011516792.1:c.514C>T | XP_011515094.1:p.Arg172Cys | |
| XM_011516792.2:c.514C>T | XP_011515094.1:p.Arg172Cys | |
| NM_001135242.2:c.1081C>T | NP_001128714.1:p.Arg361Cys | |
| NM_001258432.2:c.883C>T | NP_001245361.1:p.Arg295Cys | |
| NM_001258433.2:c.838C>T | NP_001245362.1:p.Arg280Cys | |
| NM_001374844.1:c.1132C>T | NP_001361773.1:p.Arg378Cys | |
| NM_001374845.1:c.1081C>T | NP_001361774.1:p.Arg361Cys | |
| NM_001374846.1:c.1081C>T | NP_001361775.1:p.Arg361Cys | |
| NM_001374847.1:c.883C>T | NP_001361776.1:p.Arg295Cys | |
| NM_006096.4:c.1081C>T MANE Select | NP_006087.2:p.Arg361Cys |