Linked Data
ClinVar Variation Id:
68291
dbSNP Id:
rs193302882
ExAC:
11:118899998 G / A
gnomAD v2:
11-118899998-G-A
gnomAD v3:
11-119029288-G-A
gnomAD v4:
11-119029288-G-A
COSMIC:
COSM3359041
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119029288G>A , CM000673.2:g.119029288G>A | GRCh38 |
| NC_000011.9:g.118899998G>A , CM000673.1:g.118899998G>A | GRCh37 |
| NC_000011.8:g.118405208G>A | NCBI36 |
| NG_013331.1:g.6619C>T , LRG_187:g.6619C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.311C>T | ||
| ENST00000697846.1:n.311C>T | ||
| ENST00000697847.1:n.311C>T | ||
| ENST00000697848.1:n.311C>T | ||
| ENST00000697849.1:n.555C>T | ||
| ENST00000697850.1:n.311C>T | ||
| ENST00000697851.1:n.555C>T | ||
| ENST00000638186.1:n.385C>T | ||
| ENST00000638360.1:n.319C>T | ||
| ENST00000638925.1:n.318C>T | ||
| ENST00000650539.1:n.487C>T | ||
| ENST00000330775.9:c.82C>T | ENSP00000476242.2:p.Arg28Cys | |
| ENST00000357590.9:c.82C>T | ENSP00000476176.2:p.Arg28Cys | |
| ENST00000524428.5:n.82C>T | ||
| ENST00000525039.5:n.505C>T | ||
| ENST00000525102.5:n.839C>T | ||
| ENST00000525372.5:n.82C>T | ||
| ENST00000525787.1:n.377C>T | ||
| ENST00000526626.6:n.277C>T | ||
| ENST00000527992.5:n.309C>T | ||
| ENST00000529510.5:n.100C>T | ||
| ENST00000530407.5:n.197+104C>T | ||
| ENST00000532085.1:n.1576C>T | ||
| ENST00000532888.6:n.277C>T | ||
| ENST00000534384.1:n.302C>T | ||
| ENST00000538950.5:c.-172+104C>T | ENSP00000475991.2:n.-172+104C>T | |
| ENST00000545985.5:c.82C>T | ENSP00000475241.2:p.Arg28Cys | |
| NM_001164277.1:c.82C>T , LRG_187t1:c.82C>T | NP_001157749.1:p.Arg28Cys | |
| NM_001164278.1:c.82C>T | NP_001157750.1:p.Arg28Cys | |
| NM_001164279.1:c.-172+104C>T | NP_001157751.1:n.-172+104C>T | |
| NM_001164280.1:c.82C>T | NP_001157752.1:p.Arg28Cys | |
| NM_001467.5:c.82C>T | NP_001458.1:p.Arg28Cys | |
| NM_001164278.2:c.82C>T | NP_001157750.1:p.Arg28Cys | |
| NM_001164279.2:c.-172+104C>T | NP_001157751.1:n.-172+104C>T | |
| NM_001164280.2:c.82C>T | NP_001157752.1:p.Arg28Cys | |
| NM_001467.6:c.82C>T | NP_001458.1:p.Arg28Cys | |
| NM_001164277.2:c.82C>T MANE Select | NP_001157749.1:p.Arg28Cys |