Linked Data
ClinVar Variation Id:
1780734
ClinVar RCV Id:
RCV002410327
dbSNP Id:
rs121909236
gnomAD v4:
10-87925529-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87925529C>A , CM000672.2:g.87925529C>A | GRCh38 |
| NC_000010.10:g.89685286C>A , CM000672.1:g.89685286C>A | GRCh37 |
| NC_000010.9:g.89675266C>A | NCBI36 |
| NG_007466.2:g.67091C>A , LRG_311:g.67091C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700029.2:c.181C>A | ENSP00000514759.2:p.His61Asn | |
| ENST00000710265.1:c.181C>A | ENSP00000518161.1:p.His61Asn | |
| ENST00000472832.3:c.181C>A | ENSP00000483066.2:p.His61Asn | |
| ENST00000688158.2:n.916C>A | ||
| ENST00000688922.2:c.181C>A | ENSP00000508742.2:p.His61Asn | |
| ENST00000700021.1:c.165-5517C>A | ENSP00000514757.1:n.165-5517C>A | |
| ENST00000700022.1:c.181C>A | ENSP00000514758.1:p.His61Asn | |
| ENST00000700029.1:c.15C>A | ||
| ENST00000706954.1:c.181C>A | ENSP00000516674.1:p.His61Asn | |
| ENST00000706955.1:c.*216C>A | ENSP00000516675.1:n.*216C>A | |
| ENST00000686459.1:c.181C>A | ENSP00000508909.1:p.His61Asn | |
| ENST00000688158.1:c.*292C>A | ENSP00000509254.1:n.*292C>A | |
| ENST00000688308.1:c.181C>A | ENSP00000508752.1:p.His61Asn | |
| ENST00000688922.1:c.50C>A | ||
| ENST00000693560.1:c.700C>A | ENSP00000509861.1:p.His234Asn | |
| ENST00000371953.8:c.181C>A MANE Select | ENSP00000361021.3:p.His61Asn | |
| ENST00000371953.7:c.181C>A | ENSP00000361021.3:p.His61Asn | |
| ENST00000498703.1:n.7C>A | ||
| ENST00000610634.1:c.79C>A | ENSP00000477517.1:p.His27Asn | |
| NM_000314.5:c.181C>A | NP_000305.3:p.His61Asn | |
| NM_000314.6:c.181C>A | NP_000305.3:p.His61Asn | |
| NM_001304717.2:c.700C>A | NP_001291646.2:p.His234Asn | |
| NM_001304718.1:c.-541-5517C>A | NP_001291647.1:n.-541-5517C>A | |
| XM_006717926.2:c.165-5517C>A | XP_006717989.1:n.165-5517C>A | |
| XM_011539981.1:c.181C>A | XP_011538283.1:p.His61Asn | |
| XM_011539982.1:c.85C>A | XP_011538284.1:p.His29Asn | |
| XR_945789.1:n.893C>A | ||
| XR_945790.1:n.893C>A | ||
| XR_945791.1:n.893C>A | ||
| NM_000314.7:c.181C>A | NP_000305.3:p.His61Asn | |
| NM_001304717.5:c.700C>A | NP_001291646.4:p.His234Asn | |
| NM_001304718.2:c.-541-5517C>A | NP_001291647.1:n.-541-5517C>A | |
| NM_000314.8:c.181C>A MANE Select | NP_000305.3:p.His61Asn |