Linked Data
ClinVar Variation Id:
133202
ClinVar RCV Id:
RCV000119709
RCV000655594
RCV000601471
RCV001788016
RCV001788018
RCV001788014
RCV001257496
RCV001788015
RCV001788017
RCV001788019
RCV001788020
dbSNP Id:
rs193922816
ExAC:
19:38991282 C / T
gnomAD v2:
19-38991282-C-T
gnomAD v3:
19-38500642-C-T
gnomAD v4:
19-38500642-C-T
ERepo:
CA024778/MONDO:0007783/012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38500642C>T , CM000681.2:g.38500642C>T | GRCh38 |
| NC_000019.9:g.38991282C>T , CM000681.1:g.38991282C>T | GRCh37 |
| NC_000019.8:g.43683122C>T | NCBI36 |
| NG_008866.1:g.71943C>T , LRG_766:g.71943C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.7360C>T | ENSP00000471601.2:p.Arg2454Cys | |
| ENST00000359596.8:c.7360C>T MANE Select | ENSP00000352608.2:p.Arg2454Cys | |
| ENST00000355481.8:c.7360C>T | ENSP00000347667.3:p.Arg2454Cys | |
| ENST00000359596.7:c.7360C>T | ENSP00000352608.2:p.Arg2454Cys | |
| ENST00000360985.7:c.7357C>T | ENSP00000354254.4:p.Arg2453Cys | |
| ENST00000594335.5:c.812C>T | ||
| NM_000540.2:c.7360C>T , LRG_766t1:c.7360C>T | NP_000531.2:p.Arg2454Cys | |
| NM_001042723.1:c.7360C>T | NP_001036188.1:p.Arg2454Cys | |
| XM_006723317.1:c.7360C>T | XP_006723380.1:p.Arg2454Cys | |
| XM_006723319.1:c.7360C>T | XP_006723382.1:p.Arg2454Cys | |
| XM_011527204.1:c.7357C>T | XP_011525506.1:p.Arg2453Cys | |
| XM_011527205.1:c.7360C>T | XP_011525507.1:p.Arg2454Cys | |
| XM_006723317.2:c.7360C>T | XP_006723380.1:p.Arg2454Cys | |
| XM_006723319.2:c.7360C>T | XP_006723382.1:p.Arg2454Cys | |
| XM_011527205.2:c.7360C>T | XP_011525507.1:p.Arg2454Cys | |
| XR_001753735.1:n.7443C>T | ||
| NM_000540.3:c.7360C>T MANE Select | NP_000531.2:p.Arg2454Cys | |
| NM_001042723.2:c.7360C>T | NP_001036188.1:p.Arg2454Cys |