Linked Data
ClinVar Variation Id:
1269
ClinVar RCV Id:
RCV003328146
dbSNP Id:
rs10516487
ExAC:
4:102751076 G / A
gnomAD v2:
4-102751076-G-A
gnomAD v3:
4-101829919-G-A
gnomAD v4:
4-101829919-G-A
PubMed:
PMID:18204447
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.101829919G>A , CM000666.2:g.101829919G>A | GRCh38 |
| NC_000004.11:g.102751076G>A , CM000666.1:g.102751076G>A | GRCh37 |
| NC_000004.10:g.102970099G>A | NCBI36 |
| NG_015824.1:g.44313G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000322953.9:c.182G>A MANE Select | ENSP00000320509.4:p.Arg61His | |
| ENST00000322953.8:c.182G>A | ENSP00000320509.4:p.Arg61His | |
| ENST00000428908.5:c.71-25116G>A | ENSP00000412748.1:n.71-25116G>A | |
| ENST00000444316.2:c.92G>A | ENSP00000388817.2:p.Arg31His | |
| ENST00000504592.5:c.137G>A | ENSP00000421443.1:p.Arg46His | |
| ENST00000508653.5:c.71-25116G>A | ENSP00000422314.1:n.71-25116G>A | |
| NM_001083907.2:c.92G>A | NP_001077376.2:p.Arg31His | |
| NM_001127507.2:c.71-25116G>A | NP_001120979.2:n.71-25116G>A | |
| NM_017935.4:c.182G>A | NP_060405.4:p.Arg61His | |
| XM_017008337.2:c.92G>A | XP_016863826.1:p.Arg31His | |
| NM_017935.5:c.182G>A MANE Select | NP_060405.5:p.Arg61His | |
| NM_001083907.3:c.92G>A | NP_001077376.3:p.Arg31His | |
| NM_001127507.3:c.71-25116G>A | NP_001120979.3:n.71-25116G>A |