Linked Data
ClinVar Variation Id:
446960
dbSNP Id:
rs142102094
ExAC:
1:201029913 C / T
gnomAD v2:
1-201029913-C-T
gnomAD v3:
1-201060785-C-T
gnomAD v4:
1-201060785-C-T
COSMIC:
COSM239124
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201060785C>T , CM000663.2:g.201060785C>T | GRCh38 |
| NC_000001.10:g.201029913C>T , CM000663.1:g.201029913C>T | GRCh37 |
| NC_000001.9:g.199296536C>T | NCBI36 |
| NG_009816.1:g.56782G>A | |
| NG_009816.2:g.56782G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362061.4:c.3287G>A MANE Select | ENSP00000355192.3:p.Arg1096His | |
| ENST00000679417.1:c.*2450G>A | ENSP00000506706.1:n.*2450G>A | |
| ENST00000680051.1:n.413G>A | ||
| ENST00000680059.1:c.*805G>A | ENSP00000504944.1:n.*805G>A | |
| ENST00000681078.1:c.3287G>A | ENSP00000506645.1:p.Arg1096His | |
| ENST00000681190.1:c.3287G>A | ENSP00000506428.1:p.Arg1096His | |
| ENST00000681874.1:c.3227G>A | ENSP00000505162.1:p.Arg1076His | |
| ENST00000362061.3:c.3287G>A | ENSP00000355192.3:p.Arg1096His | |
| ENST00000367338.7:c.3287G>A | ENSP00000356307.3:p.Arg1096His | |
| NM_000069.2:c.3287G>A | NP_000060.2:p.Arg1096His | |
| XM_005245478.2:c.3287G>A | XP_005245535.1:p.Arg1096His | |
| XM_005245478.3:c.3287G>A | XP_005245535.1:p.Arg1096His | |
| NM_000069.3:c.3287G>A MANE Select | NP_000060.2:p.Arg1096His |