Linked Data
ClinVar Variation Id:
1036774
ClinVar RCV Id:
RCV001339829
dbSNP Id:
rs1170843579
gnomAD v2:
20-61981765-C-T
gnomAD v3:
20-63350413-C-T
gnomAD v4:
20-63350413-C-T
COSMIC:
COSM444210
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63350413C>T , CM000682.2:g.63350413C>T | GRCh38 |
| NC_000020.10:g.61981765C>T , CM000682.1:g.61981765C>T | GRCh37 |
| NC_000020.9:g.61452209C>T | NCBI36 |
| NG_011931.1:g.15931G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.998G>A MANE Select | ENSP00000359285.4:p.Arg333His | |
| ENST00000370263.8:c.998G>A | ENSP00000359285.4:p.Arg333His | |
| ENST00000463705.5:n.1646G>A | ||
| ENST00000467563.3:n.1068G>A | ||
| ENST00000498043.6:c.1022G>A | ||
| ENST00000615287.4:c.785G>A | ENSP00000483388.1:p.Arg262His | |
| ENST00000627000.1:c.*687G>A | ENSP00000486914.1:n.*687G>A | |
| ENST00000630240.1:n.719G>A | ||
| NM_000744.6:c.998G>A | NP_000735.1:p.Arg333His | |
| NM_001256573.1:c.470G>A | NP_001243502.1:p.Arg157His | |
| NR_046317.1:n.1254G>A | ||
| XM_011528524.1:c.785G>A | XP_011526826.1:p.Arg262His | |
| XM_017027625.2:c.470G>A | XP_016883114.1:p.Arg157His | |
| XM_024451822.1:c.470G>A | XP_024307590.1:p.Arg157His | |
| NM_001256573.2:c.470G>A | NP_001243502.1:p.Arg157His | |
| NR_046317.2:n.1207G>A | ||
| NM_000744.7:c.998G>A MANE Select | NP_000735.1:p.Arg333His |