Linked Data
ClinVar Variation Id:
523223
ClinVar RCV Id:
RCV000626471
dbSNP Id:
rs761334309
ExAC:
9:138395416 C / T
gnomAD v2:
9-138395416-C-T
gnomAD v3:
9-135503570-C-T
gnomAD v4:
9-135503570-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135503570C>T , CM000671.2:g.135503570C>T | GRCh38 |
| NC_000009.11:g.138395416C>T , CM000671.1:g.138395416C>T | GRCh37 |
| NC_000009.10:g.137535237C>T | NCBI36 |
| NG_042313.1:g.7940C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462948.6:c.*201C>T | ENSP00000511903.1:n.*201C>T | |
| ENST00000472852.2:c.*134C>T | ENSP00000511904.1:n.*134C>T | |
| ENST00000472946.2:n.93C>T | ||
| ENST00000485333.6:c.*159C>T | ENSP00000511905.1:n.*159C>T | |
| ENST00000488610.6:c.*217C>T | ENSP00000511906.1:n.*217C>T | |
| ENST00000241600.10:c.328C>T MANE Select | ENSP00000241600.5:p.Arg110Cys | |
| ENST00000241600.9:c.328C>T | ENSP00000241600.5:p.Arg110Cys | |
| ENST00000371785.5:c.328C>T | ENSP00000360850.1:p.Arg110Cys | |
| ENST00000453385.1:c.370C>T | ENSP00000400082.1:p.Arg124Cys | |
| ENST00000462948.5:n.527C>T | ||
| ENST00000472852.1:n.469C>T | ||
| ENST00000472946.1:n.79C>T | ||
| ENST00000485333.5:n.475C>T | ||
| ENST00000488610.5:n.538C>T | ||
| NM_016034.4:c.328C>T | NP_057118.1:p.Arg110Cys | |
| NR_051967.1:n.551C>T | ||
| NR_051968.1:n.606C>T | ||
| NR_051969.1:n.611C>T | ||
| NR_051970.1:n.553C>T | ||
| NR_121579.1:n.820G>A | ||
| XM_006717136.2:c.397C>T | XP_006717199.1:p.Arg133Cys | |
| XM_006717136.3:c.397C>T | XP_006717199.1:p.Arg133Cys | |
| NM_016034.5:c.328C>T MANE Select | NP_057118.1:p.Arg110Cys | |
| NM_001371401.1:c.328C>T | NP_001358330.1:p.Arg110Cys | |
| NR_051967.3:n.500C>T | ||
| NR_051968.2:n.555C>T | ||
| NR_051969.2:n.560C>T | ||
| NR_051970.2:n.502C>T |