Linked Data
ClinVar Variation Id:
861789
dbSNP Id:
rs373216514
ExAC:
8:87683246 C / T
gnomAD v2:
8-87683246-C-T
gnomAD v3:
8-86671018-C-T
gnomAD v4:
8-86671018-C-T
COSMIC:
COSM3942798
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86671018C>T , CM000670.2:g.86671018C>T | GRCh38 |
| NC_000008.10:g.87683246C>T , CM000670.1:g.87683246C>T | GRCh37 |
| NC_000008.9:g.87752362C>T | NCBI36 |
| NG_016980.1:g.77658G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.419G>A MANE Select | ENSP00000316605.5:p.Arg140His | |
| ENST00000680314.1:n.180G>A | ||
| ENST00000681746.1:c.419G>A | ENSP00000505959.1:p.Arg140His | |
| ENST00000320005.5:c.419G>A | ENSP00000316605.5:p.Arg140His | |
| NM_019098.4:c.419G>A | NP_061971.3:p.Arg140His | |
| XM_011517138.1:c.5G>A | XP_011515440.1:p.Arg2His | |
| XM_011517138.2:c.5G>A | XP_011515440.1:p.Arg2His | |
| NM_019098.5:c.419G>A MANE Select | NP_061971.3:p.Arg140His |