Linked Data
ClinVar Variation Id:
5393
dbSNP Id:
rs267607025
ExAC:
8:103237239 C / T
gnomAD v2:
8-103237239-C-T
gnomAD v3:
8-102225011-C-T
gnomAD v4:
8-102225011-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102225011C>T , CM000670.2:g.102225011C>T | GRCh38 |
| NC_000008.10:g.103237239C>T , CM000670.1:g.103237239C>T | GRCh37 |
| NC_000008.9:g.103306415C>T | NCBI36 |
| NG_016617.1:g.19108G>A , LRG_788:g.19108G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251810.8:c.329G>A MANE Select | ENSP00000251810.3:p.Arg110His | |
| ENST00000251810.7:c.329G>A | ENSP00000251810.3:p.Arg110His | |
| ENST00000395912.6:c.173G>A | ENSP00000379248.2:p.Arg58His | |
| ENST00000519317.5:c.49-10853G>A | ENSP00000430641.1:n.49-10853G>A | |
| ENST00000519962.5:c.48+13816G>A | ENSP00000429140.1:n.48+13816G>A | |
| ENST00000522368.5:c.498G>A | ||
| ENST00000522394.1:c.122+7220G>A | ENSP00000429578.1:n.122+7220G>A | |
| ENST00000523957.1:c.*252G>A | ENSP00000427830.1:n.*252G>A | |
| ENST00000621845.1:c.167G>A | ENSP00000484318.1:p.Arg56His | |
| NM_001172477.1:c.545G>A , LRG_788t1:c.545G>A | NP_001165948.1:p.Arg182His | |
| NM_001172478.1:c.173G>A | NP_001165949.1:p.Arg58His | |
| NM_015713.4:c.329G>A , LRG_788t2:c.329G>A | NP_056528.2:p.Arg110His | |
| NM_001172478.2:c.173G>A | NP_001165949.1:p.Arg58His | |
| NM_015713.5:c.329G>A MANE Select | NP_056528.2:p.Arg110His |