Linked Data
ClinVar Variation Id:
781517
ClinVar RCV Id:
RCV000962757
dbSNP Id:
rs61469141
ExAC:
19:51466771 G / A
gnomAD v2:
19-51466771-G-A
gnomAD v3:
19-50963515-G-A
gnomAD v4:
19-50963515-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50963515G>A , CM000681.2:g.50963515G>A | GRCh38 |
| NC_000019.9:g.51466771G>A , CM000681.1:g.51466771G>A | GRCh37 |
| NC_000019.8:g.56158583G>A | NCBI36 |
| NG_011825.1:g.11160C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310157.7:c.232C>T MANE Select | ENSP00000309148.1:p.Arg78Trp | |
| ENST00000310157.6:c.232C>T | ENSP00000309148.1:p.Arg78Trp | |
| ENST00000376851.7:c.232C>T | ENSP00000366047.2:p.Arg78Trp | |
| ENST00000376853.8:c.197+3654C>T | ENSP00000366049.4:n.197+3654C>T | |
| ENST00000391808.5:c.-90C>T | ENSP00000375684.1:n.-90C>T | |
| ENST00000594641.1:c.232C>T | ENSP00000470482.1:p.Arg78Trp | |
| ENST00000597379.5:c.75C>T | ENSP00000469630.1:p.Phe25= | |
| ENST00000599690.1:c.162C>T | ENSP00000469702.1:p.Phe54= | |
| ENST00000599881.5:c.75C>T | ENSP00000471948.1:p.Phe25= | |
| NM_001012964.1:c.232C>T | NP_001012982.1:p.Arg78Trp | |
| NM_001012965.1:c.-90C>T | NP_001012983.1:n.-90C>T | |
| NM_002774.3:c.232C>T | NP_002765.1:p.Arg78Trp | |
| NM_001012964.2:c.232C>T | NP_001012982.1:p.Arg78Trp | |
| NM_001012965.2:c.-90C>T | NP_001012983.1:n.-90C>T | |
| NM_001319948.1:c.-90C>T | NP_001306877.1:n.-90C>T | |
| NM_001319949.1:c.-90C>T | NP_001306878.1:n.-90C>T | |
| XM_024451611.1:c.-90C>T | XP_024307379.1:n.-90C>T | |
| XR_001753976.1:n.52-3810G>A | ||
| XR_001753977.1:n.52-3810G>A | ||
| XR_001753978.1:n.52-3810G>A | ||
| XR_001753979.1:n.52-3810G>A | ||
| NM_002774.4:c.232C>T MANE Select | NP_002765.1:p.Arg78Trp | |
| NM_001319948.2:c.-90C>T | NP_001306877.1:n.-90C>T | |
| NM_001012964.3:c.232C>T | NP_001012982.1:p.Arg78Trp | |
| NM_001012965.3:c.-90C>T | NP_001012983.1:n.-90C>T | |
| NM_001319949.2:c.-90C>T | NP_001306878.1:n.-90C>T |