Linked Data
ClinVar Variation Id:
1416140
ClinVar RCV Id:
RCV001935548
dbSNP Id:
rs149784324
ExAC:
5:39311245 G / A
gnomAD v2:
5-39311245-G-A
gnomAD v3:
5-39311143-G-A
gnomAD v4:
5-39311143-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.39311143G>A , CM000667.2:g.39311143G>A | GRCh38 |
| NC_000005.9:g.39311245G>A , CM000667.1:g.39311245G>A | GRCh37 |
| NC_000005.8:g.39347002G>A | NCBI36 |
| NG_009894.1:g.58411C>T , LRG_32:g.58411C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509186.6:c.1033C>T | ENSP00000512235.1:p.Arg345Trp | |
| ENST00000695880.1:c.1105C>T | ENSP00000512236.1:p.Arg369Trp | |
| ENST00000695881.1:c.1105C>T | ENSP00000512237.1:p.Arg369Trp | |
| ENST00000695882.1:n.332C>T | ||
| ENST00000263408.5:c.1105C>T MANE Select | ENSP00000263408.4:p.Arg369Trp | |
| ENST00000263408.4:c.1105C>T | ENSP00000263408.4:p.Arg369Trp | |
| NM_001737.3:c.1105C>T , LRG_32t1:c.1105C>T | NP_001728.1:p.Arg369Trp | |
| NM_001737.4:c.1105C>T | NP_001728.1:p.Arg369Trp | |
| NM_001737.5:c.1105C>T MANE Select | NP_001728.1:p.Arg369Trp |