Linked Data
ClinVar Variation Id:
265129
ClinVar RCV Id:
RCV001263553
dbSNP Id:
rs119103287
ExAC:
8:118849384 C / T
gnomAD v2:
8-118849384-C-T
gnomAD v4:
8-117837145-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117837145C>T , CM000670.2:g.117837145C>T | GRCh38 |
| NC_000008.10:g.118849384C>T , CM000670.1:g.118849384C>T | GRCh37 |
| NC_000008.9:g.118918565C>T | NCBI36 |
| NG_007455.2:g.279675G>A , LRG_493:g.279675G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684189.1:n.486G>A | ||
| ENST00000378204.7:c.1019G>A MANE Select | ENSP00000367446.3:p.Arg340His | |
| ENST00000436216.2:c.387G>A | ||
| ENST00000378204.6:c.1019G>A | ENSP00000367446.2:p.Arg340His | |
| ENST00000436216.1:c.387G>A | ||
| ENST00000437196.1:c.74-1594G>A | ENSP00000407299.1:n.74-1594G>A | |
| NM_000127.2:c.1019G>A , LRG_493t1:c.1019G>A | NP_000118.2:p.Arg340His | |
| NM_000127.3:c.1019G>A MANE Select | NP_000118.2:p.Arg340His |