Linked Data
ClinVar Variation Id:
134574
dbSNP Id:
rs200624610
ExAC:
19:17945407 G / A
gnomAD v2:
19-17945407-G-A
gnomAD v3:
19-17834598-G-A
gnomAD v4:
19-17834598-G-A
ERepo:
CA160228/MONDO:0010938/121
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17834598G>A , CM000681.2:g.17834598G>A | GRCh38 |
| NC_000019.9:g.17945407G>A , CM000681.1:g.17945407G>A | GRCh37 |
| NC_000019.8:g.17806407G>A | NCBI36 |
| NG_007273.1:g.18394C>T , LRG_77:g.18394C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.*880C>T | ENSP00000513006.1:n.*880C>T | |
| ENST00000696967.1:n.1500C>T | ||
| ENST00000696970.1:n.978C>T | ||
| ENST00000458235.7:c.2323C>T MANE Select | ENSP00000391676.1:p.Arg775Cys | |
| ENST00000458235.5:c.2323C>T | ENSP00000391676.1:p.Arg775Cys | |
| ENST00000527031.5:n.2278+2129C>T | ||
| ENST00000527670.5:c.2323C>T | ENSP00000432511.1:p.Arg775Cys | |
| ENST00000534444.1:c.2323C>T | ENSP00000436421.1:p.Arg775Cys | |
| NM_000215.3:c.2323C>T , LRG_77t1:c.2323C>T | NP_000206.2:p.Arg775Cys | |
| XM_005259896.2:c.2452C>T | XP_005259953.1:p.Arg818Cys | |
| XM_006722745.2:c.2323C>T | XP_006722808.1:p.Arg775Cys | |
| XM_011527990.1:c.2452C>T | XP_011526292.1:p.Arg818Cys | |
| XR_430137.2:n.2462C>T | ||
| XM_005259896.3:c.2452C>T | XP_005259953.1:p.Arg818Cys | |
| NM_000215.4:c.2323C>T MANE Select | NP_000206.2:p.Arg775Cys |