Linked Data
ClinVar Variation Id:
191099
ClinVar RCV Id:
RCV000171278
dbSNP Id:
rs542184779
ExAC:
19:13221024 G / A
gnomAD v2:
19-13221024-G-A
gnomAD v4:
19-13110210-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13110210G>A , CM000681.2:g.13110210G>A | GRCh38 |
| NC_000019.9:g.13221024G>A , CM000681.1:g.13221024G>A | GRCh37 |
| NC_000019.8:g.13082024G>A | NCBI36 |
| NG_054900.1:g.12358C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357720.9:c.967C>T MANE Select | ENSP00000350352.4:p.Arg323Cys | |
| ENST00000221504.12:c.967C>T | ENSP00000221504.7:p.Arg323Cys | |
| ENST00000357720.8:c.967C>T | ENSP00000350352.4:p.Arg323Cys | |
| ENST00000437766.5:c.967C>T | ENSP00000416149.1:p.Arg323Cys | |
| ENST00000587487.5:c.325C>T | ENSP00000465370.1:p.Arg109Cys | |
| ENST00000587633.1:c.624C>T | ENSP00000466716.1:n.624C>T | |
| ENST00000588511.5:n.1152C>T | ||
| ENST00000592062.5:c.967C>T | ENSP00000466967.1:p.Arg323Cys | |
| ENST00000592814.5:c.841C>T | ENSP00000467938.1:p.Arg281Cys | |
| ENST00000593157.5:n.996C>T | ||
| NM_001136035.2:c.967C>T | NP_001129507.1:p.Arg323Cys | |
| NM_001142554.1:c.967C>T | NP_001136026.1:p.Arg323Cys | |
| NM_017722.3:c.967C>T | NP_060192.1:p.Arg323Cys | |
| XM_005259983.1:c.967C>T | XP_005260040.1:p.Arg323Cys | |
| XM_006722793.2:c.325C>T | XP_006722856.1:p.Arg109Cys | |
| XM_011528124.1:c.859C>T | XP_011526426.1:p.Arg287Cys | |
| XM_011528125.1:c.325C>T | XP_011526427.1:p.Arg109Cys | |
| XM_011528126.1:c.184C>T | XP_011526428.1:p.Arg62Cys | |
| NM_001136035.3:c.967C>T | NP_001129507.1:p.Arg323Cys | |
| NM_001142554.2:c.967C>T | NP_001136026.1:p.Arg323Cys | |
| NM_001351760.1:c.967C>T | NP_001338689.1:p.Arg323Cys | |
| NM_001351761.1:c.859C>T | NP_001338690.1:p.Arg287Cys | |
| NM_001351762.1:c.184C>T | NP_001338691.1:p.Arg62Cys | |
| NM_017722.4:c.967C>T | NP_060192.1:p.Arg323Cys | |
| XM_024451587.1:c.325C>T | XP_024307355.1:p.Arg109Cys | |
| XM_024451588.1:c.325C>T | XP_024307356.1:p.Arg109Cys | |
| XM_024451589.1:c.325C>T | XP_024307357.1:p.Arg109Cys | |
| XM_024451590.1:c.325C>T | XP_024307358.1:p.Arg109Cys | |
| XM_024451591.1:c.184C>T | XP_024307359.1:p.Arg62Cys | |
| XM_024451592.1:c.184C>T | XP_024307360.1:p.Arg62Cys | |
| XM_024451593.1:c.184C>T | XP_024307361.1:p.Arg62Cys | |
| XR_002958328.1:n.1093C>T | ||
| XR_002958329.1:n.792C>T | ||
| NM_001136035.4:c.967C>T MANE Select | NP_001129507.1:p.Arg323Cys | |
| NM_001142554.3:c.967C>T | NP_001136026.1:p.Arg323Cys | |
| NM_001351760.2:c.967C>T | NP_001338689.1:p.Arg323Cys | |
| NM_001351761.2:c.859C>T | NP_001338690.1:p.Arg287Cys | |
| NM_001351762.2:c.184C>T | NP_001338691.1:p.Arg62Cys | |
| NM_017722.5:c.967C>T | NP_060192.1:p.Arg323Cys |