Linked Data
ClinVar Variation Id:
217616
ClinVar RCV Id:
RCV000201637
dbSNP Id:
rs863225179
gnomAD v4:
4-15597460-A-C
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15597460A>C , CM000666.2:g.15597460A>C | GRCh38 |
| NC_000004.11:g.15599083A>C , CM000666.1:g.15599083A>C | GRCh37 |
| NC_000004.10:g.15208181A>C | NCBI36 |
| NG_013035.1:g.132595A>C , LRG_697:g.132595A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389652.11:c.4527A>C | ENSP00000374303.8:p.Gln1509His | |
| ENST00000424120.6:c.4491A>C MANE Select | ENSP00000403465.1:p.Gln1497His | |
| ENST00000503292.6:c.4491A>C | ENSP00000421809.1:p.Gln1497His | |
| ENST00000506643.5:c.4344A>C | ENSP00000422931.2:p.Gln1448His | |
| ENST00000513035.2:n.390A>C | ||
| ENST00000514039.6:c.597A>C | ENSP00000488534.2:p.Gln199His | |
| ENST00000634028.2:c.4285A>C | ENSP00000488669.2:n.4285A>C | |
| ENST00000650860.2:c.*1988A>C | ENSP00000498775.1:n.*1988A>C | |
| ENST00000674945.1:c.4167A>C | ENSP00000502333.1:p.Gln1389His | |
| ENST00000680586.1:n.5150A>C | ||
| ENST00000389652.9:c.3989A>C | ||
| ENST00000424120.5:c.4491A>C | ENSP00000403465.1:p.Gln1497His | |
| ENST00000503292.5:c.4491A>C | ENSP00000421809.1:p.Gln1497His | |
| ENST00000506643.4:c.2760A>C | ||
| ENST00000513035.1:n.390A>C | ||
| ENST00000514039.5:c.107A>C | ||
| ENST00000634028.1:c.4297A>C | ENSP00000488669.1:n.4297A>C | |
| NM_001080522.2:c.4491A>C , LRG_697t1:c.4491A>C | NP_001073991.2:p.Gln1497His | |
| XM_005248177.1:c.4491A>C | XP_005248234.1:p.Gln1497His | |
| XM_011513869.1:c.4509A>C | XP_011512171.1:p.Gln1503His | |
| XM_011513870.1:c.4509A>C | XP_011512172.1:p.Gln1503His | |
| XM_011513871.1:c.4362A>C | XP_011512173.1:p.Gln1454His | |
| XM_017008482.1:c.4344A>C | XP_016863971.1:p.Gln1448His | |
| NM_001378615.1:c.4491A>C MANE Select | NP_001365544.1:p.Gln1497His | |
| NM_001378617.1:c.4344A>C | NP_001365546.1:p.Gln1448His |