Linked Data
ClinVar Variation Id:
418388
ClinVar RCV Id:
RCV000482914
dbSNP Id:
rs1023858722
gnomAD v3:
10-70435435-G-A
gnomAD v4:
10-70435435-G-A
COSMIC:
COSM5520893
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70435435G>A , CM000672.2:g.70435435G>A | GRCh38 |
| NC_000010.10:g.72195191G>A , CM000672.1:g.72195191G>A | GRCh37 |
| NC_000010.9:g.71865197G>A | NCBI36 |
| NG_012448.1:g.11275C>T | |
| NG_012448.2:g.17514C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287139.8:c.742C>T MANE Select | ENSP00000287139.3:p.Arg248Trp | |
| ENST00000287139.7:c.742C>T | ENSP00000287139.3:p.Arg248Trp | |
| ENST00000414871.1:c.577C>T | ENSP00000394468.1:p.Arg193Trp | |
| NM_018055.4:c.742C>T | NP_060525.3:p.Arg248Trp | |
| NM_001329906.1:c.343C>T | NP_001316835.1:p.Arg115Trp | |
| XM_024448028.1:c.343C>T | XP_024303796.1:p.Arg115Trp | |
| NM_018055.5:c.742C>T MANE Select | NP_060525.3:p.Arg248Trp | |
| NM_001329906.2:c.343C>T | NP_001316835.1:p.Arg115Trp |