Linked Data
ClinVar Variation Id:
428223
ClinVar RCV Id:
RCV000491096
dbSNP Id:
rs1114167648
gnomAD v3:
10-87960907-A-C
gnomAD v4:
10-87960907-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87960907A>C , CM000672.2:g.87960907A>C | GRCh38 |
| NC_000010.10:g.89720664A>C , CM000672.1:g.89720664A>C | GRCh37 |
| NC_000010.9:g.89710644A>C | NCBI36 |
| NG_007466.2:g.102469A>C , LRG_311:g.102469A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.908A>C | ENSP00000514759.2:p.His303Pro | |
| ENST00000710265.1:c.815A>C | ENSP00000518161.1:p.His272Pro | |
| ENST00000472832.3:c.815A>C | ENSP00000483066.2:p.His272Pro | |
| ENST00000688158.2:n.1550A>C | ||
| ENST00000688922.2:c.*645A>C | ENSP00000508742.2:n.*645A>C | |
| ENST00000700021.1:c.770A>C | ENSP00000514757.1:p.His257Pro | |
| ENST00000700022.1:c.*154A>C | ENSP00000514758.1:n.*154A>C | |
| ENST00000700023.1:n.1973A>C | ||
| ENST00000700024.1:n.2207A>C | ||
| ENST00000700025.1:n.1584A>C | ||
| ENST00000700026.1:n.452A>C | ||
| ENST00000700029.1:c.742A>C | ||
| ENST00000706954.1:c.815A>C | ENSP00000516674.1:p.His272Pro | |
| ENST00000706955.1:c.*850A>C | ENSP00000516675.1:n.*850A>C | |
| ENST00000686459.1:c.*401A>C | ENSP00000508909.1:n.*401A>C | |
| ENST00000688158.1:c.*926A>C | ENSP00000509254.1:n.*926A>C | |
| ENST00000688308.1:c.815A>C | ENSP00000508752.1:p.His272Pro | |
| ENST00000688922.1:c.736A>C | ||
| ENST00000693560.1:c.1334A>C | ENSP00000509861.1:p.His445Pro | |
| ENST00000371953.8:c.815A>C MANE Select | ENSP00000361021.3:p.His272Pro | |
| ENST00000371953.7:c.815A>C | ENSP00000361021.3:p.His272Pro | |
| ENST00000472832.2:c.242A>C | ENSP00000483066.1:p.His81Pro | |
| NM_000314.5:c.815A>C | NP_000305.3:p.His272Pro | |
| NM_000314.6:c.815A>C | NP_000305.3:p.His272Pro | |
| NM_001304717.2:c.1334A>C | NP_001291646.2:p.His445Pro | |
| NM_001304718.1:c.224A>C | NP_001291647.1:p.His75Pro | |
| XM_006717926.2:c.770A>C | XP_006717989.1:p.His257Pro | |
| XM_011539981.1:c.815A>C | XP_011538283.1:p.His272Pro | |
| XM_011539982.1:c.719A>C | XP_011538284.1:p.His240Pro | |
| XR_945791.1:n.1385A>C | ||
| NM_000314.7:c.815A>C | NP_000305.3:p.His272Pro | |
| NM_001304717.5:c.1334A>C | NP_001291646.4:p.His445Pro | |
| NM_001304718.2:c.224A>C | NP_001291647.1:p.His75Pro | |
| NM_000314.8:c.815A>C MANE Select | NP_000305.3:p.His272Pro |