Linked Data
ClinVar Variation Id:
1346020
ClinVar RCV Id:
RCV002050001
dbSNP Id:
rs2111880498
gnomAD v4:
5-39308356-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.39308356C>A , CM000667.2:g.39308356C>A | GRCh38 |
| NC_000005.9:g.39308458C>A , CM000667.1:g.39308458C>A | GRCh37 |
| NC_000005.8:g.39344215C>A | NCBI36 |
| NG_009894.1:g.61198G>T , LRG_32:g.61198G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509186.6:c.1042G>T | ENSP00000512235.1:p.Val348Phe | |
| ENST00000695880.1:c.1112-1564G>T | ENSP00000512236.1:n.1112-1564G>T | |
| ENST00000695881.1:c.1114G>T | ENSP00000512237.1:p.Val372Phe | |
| ENST00000695882.1:n.341G>T | ||
| ENST00000263408.5:c.1114G>T MANE Select | ENSP00000263408.4:p.Val372Phe | |
| ENST00000263408.4:c.1114G>T | ENSP00000263408.4:p.Val372Phe | |
| NM_001737.3:c.1114G>T , LRG_32t1:c.1114G>T | NP_001728.1:p.Val372Phe | |
| NM_001737.4:c.1114G>T | NP_001728.1:p.Val372Phe | |
| NM_001737.5:c.1114G>T MANE Select | NP_001728.1:p.Val372Phe |