Linked Data
ClinVar Variation Id:
198360
dbSNP Id:
rs140250347
ExAC:
1:103345315 C / T
gnomAD v2:
1-103345315-C-T
gnomAD v3:
1-102879759-C-T
gnomAD v4:
1-102879759-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102879759C>T , CM000663.2:g.102879759C>T | GRCh38 |
| NC_000001.10:g.103345315C>T , CM000663.1:g.103345315C>T | GRCh37 |
| NC_000001.9:g.103117903C>T | NCBI36 |
| NG_008033.1:g.233738G>A | |
| NG_008033.2:g.233738G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.5198G>A MANE Select | ENSP00000359114.3:p.Arg1733His | |
| ENST00000639098.1:n.571G>A | ||
| ENST00000353414.8:c.5081G>A | ENSP00000302551.6:p.Arg1694His | |
| ENST00000358392.6:c.5234G>A | ENSP00000351163.2:p.Arg1745His | |
| ENST00000370096.7:c.5198G>A | ENSP00000359114.3:p.Arg1733His | |
| ENST00000470170.1:n.260G>A | ||
| ENST00000512756.5:c.4850G>A | ENSP00000426533.1:p.Arg1617His | |
| ENST00000635193.1:c.4532G>A | ||
| NM_001190709.1:c.5081G>A | NP_001177638.1:p.Arg1694His | |
| NM_001854.3:c.5198G>A | NP_001845.3:p.Arg1733His | |
| NM_080629.2:c.5234G>A | NP_542196.2:p.Arg1745His | |
| NM_080630.3:c.4850G>A | NP_542197.3:p.Arg1617His | |
| XM_011540720.1:c.3431G>A | XP_011539022.1:p.Arg1144His | |
| XM_011540721.1:c.2786G>A | XP_011539023.1:p.Arg929His | |
| NR_134980.1:n.5532G>A | ||
| XM_017000334.1:c.5351G>A | XP_016855823.1:p.Arg1784His | |
| XM_017000335.1:c.5345G>A | XP_016855824.1:p.Arg1782His | |
| XM_017000337.1:c.3749G>A | XP_016855826.1:p.Arg1250His | |
| NM_001854.4:c.5198G>A MANE Select | NP_001845.3:p.Arg1733His | |
| NM_080630.4:c.4850G>A | NP_542197.3:p.Arg1617His | |
| NR_134980.2:n.5558G>A | ||
| NM_001190709.2:c.5081G>A | NP_001177638.1:p.Arg1694His | |
| NM_080629.3:c.5234G>A | NP_542196.2:p.Arg1745His |