Linked Data
ClinVar Variation Id:
200559
dbSNP Id:
rs766379103
ExAC:
7:150671918 G / T
gnomAD v2:
7-150671918-G-T
gnomAD v3:
7-150974830-G-T
gnomAD v4:
7-150974830-G-T
PubMed:
PMID:23631430
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150974830G>T , CM000669.2:g.150974830G>T | GRCh38 |
| NC_000007.13:g.150671918G>T , CM000669.1:g.150671918G>T | GRCh37 |
| NC_000007.12:g.150302851G>T | NCBI36 |
| NG_008916.1:g.8097C>A , LRG_288:g.8097C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262186.10:c.188C>A MANE Select | ENSP00000262186.5:p.Pro63His | |
| ENST00000262186.9:c.188C>A | ENSP00000262186.5:p.Pro63His | |
| ENST00000430723.4:c.11C>A | ENSP00000387657.4:p.Pro4His | |
| ENST00000532957.5:n.411C>A | ||
| NM_000238.3:c.188C>A , LRG_288t1:c.188C>A | NP_000229.1:p.Pro63His | |
| NM_172056.2:c.188C>A , LRG_288t2:c.188C>A | NP_742053.1:p.Pro63His | |
| XM_011516186.1:c.188C>A | XP_011514488.1:p.Pro63His | |
| XM_011516186.3:c.188C>A | XP_011514488.1:p.Pro63His | |
| XM_017012196.1:c.11C>A | XP_016867685.1:p.Pro4His | |
| NM_000238.4:c.188C>A MANE Select | NP_000229.1:p.Pro63His |