Linked Data
ClinVar Variation Id:
200410
dbSNP Id:
rs794728383
gnomAD v2:
7-150648073-C-T
gnomAD v3:
7-150950985-C-T
gnomAD v4:
7-150950985-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150950985C>T , CM000669.2:g.150950985C>T | GRCh38 |
| NC_000007.13:g.150648073C>T , CM000669.1:g.150648073C>T | GRCh37 |
| NC_000007.12:g.150279006C>T | NCBI36 |
| NG_008916.1:g.31942G>A , LRG_288:g.31942G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1379G>A | ||
| ENST00000683359.1:n.205G>A | ||
| ENST00000684241.1:n.2914G>A | ||
| ENST00000262186.10:c.2081G>A MANE Select | ENSP00000262186.5:p.Arg694His | |
| ENST00000330883.9:c.1061G>A | ENSP00000328531.4:p.Arg354His | |
| ENST00000262186.9:c.2081G>A | ENSP00000262186.5:p.Arg694His | |
| ENST00000330883.8:c.1061G>A | ENSP00000328531.4:p.Arg354His | |
| ENST00000430723.4:c.1733G>A | ENSP00000387657.4:p.Arg578His | |
| ENST00000461280.1:n.1368G>A | ||
| ENST00000473610.5:n.1713G>A | ||
| ENST00000532957.5:n.2304G>A | ||
| NM_000238.3:c.2081G>A , LRG_288t1:c.2081G>A | NP_000229.1:p.Arg694His | |
| NM_001204798.1:c.1061G>A | NP_001191727.1:p.Arg354His | |
| NM_172056.2:c.2081G>A , LRG_288t2:c.2081G>A | NP_742053.1:p.Arg694His | |
| NM_172057.2:c.1061G>A , LRG_288t3:c.1061G>A | NP_742054.1:p.Arg354His | |
| XM_011516185.1:c.1781G>A | XP_011514487.1:p.Arg594His | |
| XM_011516186.1:c.2081G>A | XP_011514488.1:p.Arg694His | |
| XM_011516185.2:c.1781G>A | XP_011514487.1:p.Arg594His | |
| XM_011516186.3:c.2081G>A | XP_011514488.1:p.Arg694His | |
| XM_017012195.1:c.1931G>A | XP_016867684.1:p.Arg644His | |
| XM_017012196.1:c.1904G>A | XP_016867685.1:p.Arg635His | |
| NM_000238.4:c.2081G>A MANE Select | NP_000229.1:p.Arg694His | |
| NM_001204798.2:c.1061G>A | NP_001191727.1:p.Arg354His | |
| NM_172057.3:c.1061G>A | NP_742054.1:p.Arg354His |