Linked Data
ClinVar Variation Id:
2955891
ClinVar RCV Id:
RCV003811042
dbSNP Id:
rs1601476801
gnomAD v3:
20-63350831-T-C
gnomAD v4:
20-63350831-T-C
COSMIC:
COSM3991840
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63350831T>C , CM000682.2:g.63350831T>C | GRCh38 |
| NC_000020.10:g.61982183T>C , CM000682.1:g.61982183T>C | GRCh37 |
| NC_000020.9:g.61452627T>C | NCBI36 |
| NG_011931.1:g.15513A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.580A>G MANE Select | ENSP00000359285.4:p.Met194Val | |
| ENST00000370263.8:c.580A>G | ENSP00000359285.4:p.Met194Val | |
| ENST00000463705.5:n.1228A>G | ||
| ENST00000467563.3:n.650A>G | ||
| ENST00000498043.6:c.604A>G | ||
| ENST00000615287.4:c.367A>G | ENSP00000483388.1:p.Met123Val | |
| ENST00000627000.1:c.*269A>G | ENSP00000486914.1:n.*269A>G | |
| ENST00000630240.1:n.301A>G | ||
| NM_000744.6:c.580A>G | NP_000735.1:p.Met194Val | |
| NM_001256573.1:c.52A>G | NP_001243502.1:p.Met18Val | |
| NR_046317.1:n.836A>G | ||
| XM_011528524.1:c.367A>G | XP_011526826.1:p.Met123Val | |
| XM_017027625.2:c.52A>G | XP_016883114.1:p.Met18Val | |
| XM_024451822.1:c.52A>G | XP_024307590.1:p.Met18Val | |
| NM_001256573.2:c.52A>G | NP_001243502.1:p.Met18Val | |
| NR_046317.2:n.789A>G | ||
| NM_000744.7:c.580A>G MANE Select | NP_000735.1:p.Met194Val |