Linked Data
ClinVar Variation Id:
420360
ClinVar RCV Id:
RCV000481837
dbSNP Id:
rs147630756
ExAC:
11:653967 G / A
gnomAD v2:
11-653967-G-A
gnomAD v3:
11-653967-G-A
gnomAD v4:
11-653967-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.653967G>A , CM000673.2:g.653967G>A | GRCh38 |
| NC_000011.9:g.653967G>A , CM000673.1:g.653967G>A | GRCh37 |
| NC_000011.8:g.643967G>A | NCBI36 |
| NG_034156.1:g.46788C>T | |
| NG_034156.2:g.58117C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525626.6:n.1473C>T | ||
| ENST00000528864.6:n.1474C>T | ||
| ENST00000530813.2:c.*1211C>T | ENSP00000508507.1:n.*1211C>T | |
| ENST00000682936.1:n.1348C>T | ||
| ENST00000683307.1:c.862C>T | ENSP00000507198.1:p.Arg288Cys | |
| ENST00000685854.1:c.1384C>T | ENSP00000508801.1:p.Arg462Cys | |
| ENST00000686001.1:c.1384C>T | ENSP00000508459.1:p.Arg462Cys | |
| ENST00000687329.1:c.*423C>T | ENSP00000510598.1:n.*423C>T | |
| ENST00000689835.1:c.1384C>T | ENSP00000510621.1:p.Arg462Cys | |
| ENST00000690068.1:c.1255C>T | ENSP00000509089.1:p.Arg419Cys | |
| ENST00000692634.1:c.*333C>T | ENSP00000508859.1:n.*333C>T | |
| ENST00000382409.4:c.1588C>T MANE Select | ENSP00000371846.3:p.Arg530Cys | |
| ENST00000382409.3:c.1588C>T | ENSP00000371846.3:p.Arg530Cys | |
| ENST00000525904.5:n.771C>T | ||
| ENST00000527170.5:c.950C>T | ||
| ENST00000530813.1:n.663C>T | ||
| NM_001293634.1:c.1363C>T | NP_001280563.1:p.Arg455Cys | |
| NM_021008.3:c.1588C>T | NP_066288.2:p.Arg530Cys | |
| XM_011519842.1:c.1588C>T | XP_011518144.1:p.Arg530Cys | |
| XM_011519843.1:c.1588C>T | XP_011518145.1:p.Arg530Cys | |
| XR_428838.2:n.1594C>T | ||
| XR_930843.1:n.1956C>T | ||
| XM_011519842.3:c.1588C>T | XP_011518144.1:p.Arg530Cys | |
| XM_024448325.1:c.1588C>T | XP_024304093.1:p.Arg530Cys | |
| XM_024448326.1:c.1588C>T | XP_024304094.1:p.Arg530Cys | |
| XM_024448327.1:c.*423C>T | XP_024304095.1:n.*423C>T | |
| NM_001367390.1:c.862C>T | NP_001354319.1:p.Arg288Cys | |
| NM_021008.4:c.1588C>T MANE Select | NP_066288.2:p.Arg530Cys |