Linked Data
ClinVar Variation Id:
955539
ClinVar RCV Id:
RCV001228201
dbSNP Id:
rs951238893
gnomAD v2:
20-61981775-C-T
gnomAD v4:
20-63350423-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63350423C>T , CM000682.2:g.63350423C>T | GRCh38 |
| NC_000020.10:g.61981775C>T , CM000682.1:g.61981775C>T | GRCh37 |
| NC_000020.9:g.61452219C>T | NCBI36 |
| NG_011931.1:g.15921G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.988G>A MANE Select | ENSP00000359285.4:p.Val330Met | |
| ENST00000370263.8:c.988G>A | ENSP00000359285.4:p.Val330Met | |
| ENST00000463705.5:n.1636G>A | ||
| ENST00000467563.3:n.1058G>A | ||
| ENST00000498043.6:c.1012G>A | ||
| ENST00000615287.4:c.775G>A | ENSP00000483388.1:p.Val259Met | |
| ENST00000627000.1:c.*677G>A | ENSP00000486914.1:n.*677G>A | |
| ENST00000630240.1:n.709G>A | ||
| NM_000744.6:c.988G>A | NP_000735.1:p.Val330Met | |
| NM_001256573.1:c.460G>A | NP_001243502.1:p.Val154Met | |
| NR_046317.1:n.1244G>A | ||
| XM_011528524.1:c.775G>A | XP_011526826.1:p.Val259Met | |
| XM_017027625.2:c.460G>A | XP_016883114.1:p.Val154Met | |
| XM_024451822.1:c.460G>A | XP_024307590.1:p.Val154Met | |
| NM_001256573.2:c.460G>A | NP_001243502.1:p.Val154Met | |
| NR_046317.2:n.1197G>A | ||
| NM_000744.7:c.988G>A MANE Select | NP_000735.1:p.Val330Met |