Linked Data
ClinVar Variation Id:
956333
ClinVar RCV Id:
RCV001229116
dbSNP Id:
rs920606773
gnomAD v2:
X-48762245-C-T
gnomAD v3:
X-48904968-C-T
gnomAD v4:
X-48904968-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48904968C>T , CM000685.2:g.48904968C>T | GRCh38 |
| NC_000023.10:g.48762245C>T , CM000685.1:g.48762245C>T | GRCh37 |
| NC_000023.9:g.48647189C>T | NCBI36 |
| NG_015967.1:g.12051C>T | |
| NG_034300.1:g.11991G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247138.11:c.941G>A MANE Select | ENSP00000247138.5:p.Arg314His | |
| ENST00000247138.10:c.941G>A | ENSP00000247138.5:p.Arg314His | |
| ENST00000376515.8:c.355-76G>A | ENSP00000365698.3:n.355-76G>A | |
| ENST00000376521.6:c.941G>A | ENSP00000365704.1:p.Arg314His | |
| ENST00000376529.8:c.427-76G>A | ENSP00000365712.3:n.427-76G>A | |
| ENST00000413561.7:c.503G>A | ||
| ENST00000445167.7:c.427-76G>A | ENSP00000402726.2:n.427-76G>A | |
| ENST00000452555.7:c.1025G>A | ENSP00000416002.2:p.Arg342His | |
| ENST00000616181.5:c.980G>A | ENSP00000478617.1:p.Arg327His | |
| ENST00000635285.1:c.941G>A | ENSP00000489484.1:p.Arg314His | |
| ENST00000635460.1:c.424+1424G>A | ||
| ENST00000635589.1:c.758G>A | ENSP00000489197.1:p.Arg253His | |
| ENST00000635628.1:c.*835G>A | ENSP00000489613.1:n.*835G>A | |
| NM_001032289.2:c.427-76G>A | NP_001027460.1:n.427-76G>A | |
| NM_001042498.2:c.941G>A | NP_001035963.1:p.Arg314His | |
| NM_001282647.1:c.427-76G>A | NP_001269576.1:n.427-76G>A | |
| NM_001282648.1:c.355-76G>A | NP_001269577.1:n.355-76G>A | |
| NM_001282649.1:c.758G>A | NP_001269578.1:p.Arg253His | |
| NM_001282650.1:c.980G>A | NP_001269579.1:p.Arg327His | |
| NM_001282651.1:c.1025G>A | NP_001269580.1:p.Arg342His | |
| NM_005660.2:c.941G>A | NP_005651.1:p.Arg314His | |
| NM_005660.3:c.941G>A MANE Select | NP_005651.1:p.Arg314His | |
| NM_001032289.3:c.427-76G>A | NP_001027460.1:n.427-76G>A | |
| NM_001042498.3:c.941G>A | NP_001035963.1:p.Arg314His | |
| NM_001282647.2:c.427-76G>A | NP_001269576.1:n.427-76G>A | |
| NM_001282649.2:c.758G>A | NP_001269578.1:p.Arg253His | |
| NM_001282650.2:c.980G>A | NP_001269579.1:p.Arg327His | |
| NM_001282651.2:c.1025G>A | NP_001269580.1:p.Arg342His | |
| NM_001282648.2:c.355-76G>A | NP_001269577.1:n.355-76G>A |