Linked Data
ClinVar Variation Id:
224400
dbSNP Id:
rs138593495
ExAC:
19:39027398 C / T
gnomAD v2:
19-39027398-C-T
gnomAD v3:
19-38536758-C-T
gnomAD v4:
19-38536758-C-T
PubMed:
PMID:24195946
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38536758C>T , CM000681.2:g.38536758C>T | GRCh38 |
| NC_000019.9:g.39027398C>T , CM000681.1:g.39027398C>T | GRCh37 |
| NC_000019.8:g.43719238C>T | NCBI36 |
| NG_008866.1:g.108059C>T , LRG_766:g.108059C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688602.1:c.9C>T | ||
| ENST00000359596.8:c.11599C>T MANE Select | ENSP00000352608.2:p.Arg3867Cys | |
| ENST00000355481.8:c.11584C>T | ENSP00000347667.3:p.Arg3862Cys | |
| ENST00000359596.7:c.11599C>T | ENSP00000352608.2:p.Arg3867Cys | |
| ENST00000360985.7:c.11581C>T | ENSP00000354254.4:p.Arg3861Cys | |
| ENST00000593322.1:c.218-1122C>T | ||
| ENST00000594335.5:c.4977+688C>T | ||
| ENST00000596431.5:c.319+688C>T | ENSP00000470848.1:n.319+688C>T | |
| NM_000540.2:c.11599C>T , LRG_766t1:c.11599C>T | NP_000531.2:p.Arg3867Cys | |
| NM_001042723.1:c.11584C>T | NP_001036188.1:p.Arg3862Cys | |
| XM_006723317.1:c.11590+688C>T | XP_006723380.1:n.11590+688C>T | |
| XM_006723319.1:c.11575+688C>T | XP_006723382.1:n.11575+688C>T | |
| XM_011527204.1:c.11596C>T | XP_011525506.1:p.Arg3866Cys | |
| XM_011527205.1:c.11599C>T | XP_011525507.1:p.Arg3867Cys | |
| XM_006723317.2:c.11590+688C>T | XP_006723380.1:n.11590+688C>T | |
| XM_006723319.2:c.11575+688C>T | XP_006723382.1:n.11575+688C>T | |
| XM_011527205.2:c.11599C>T | XP_011525507.1:p.Arg3867Cys | |
| NM_000540.3:c.11599C>T MANE Select | NP_000531.2:p.Arg3867Cys | |
| NM_001042723.2:c.11584C>T | NP_001036188.1:p.Arg3862Cys |