Linked Data
ClinVar Variation Id:
239959
dbSNP Id:
rs878854712
gnomAD v2:
11-118038838-C-T
gnomAD v3:
11-118168123-C-T
gnomAD v4:
11-118168123-C-T
COSMIC:
COSM145910
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118168123C>T , CM000673.2:g.118168123C>T | GRCh38 |
| NC_000011.9:g.118038838C>T , CM000673.1:g.118038838C>T | GRCh37 |
| NC_000011.8:g.117544048C>T | NCBI36 |
| NG_042217.1:g.13500G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000278947.6:c.410G>A MANE Select | ENSP00000278947.5:p.Arg137His | |
| ENST00000658882.1:c.*235G>A | ENSP00000499572.1:n.*235G>A | |
| ENST00000669850.1:n.652G>A | ||
| ENST00000278947.5:c.410G>A | ENSP00000278947.5:p.Arg137His | |
| NM_004588.4:c.410G>A | NP_004579.1:p.Arg137His | |
| NM_004588.5:c.410G>A MANE Select | NP_004579.1:p.Arg137His |