Linked Data
ClinVar Variation Id:
67190
dbSNP Id:
rs199472902
ExAC:
7:150649718 G / A
gnomAD v2:
7-150649718-G-A
gnomAD v3:
7-150952630-G-A
gnomAD v4:
7-150952630-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150952630G>A , CM000669.2:g.150952630G>A | GRCh38 |
| NC_000007.13:g.150649718G>A , CM000669.1:g.150649718G>A | GRCh37 |
| NC_000007.12:g.150280651G>A | NCBI36 |
| NG_008916.1:g.30297C>T , LRG_288:g.30297C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.650C>T | ||
| ENST00000684116.1:n.245C>T | ||
| ENST00000684241.1:n.2185C>T | ||
| ENST00000262186.10:c.1352C>T MANE Select | ENSP00000262186.5:p.Pro451Leu | |
| ENST00000330883.9:c.332C>T | ENSP00000328531.4:p.Pro111Leu | |
| ENST00000262186.9:c.1352C>T | ENSP00000262186.5:p.Pro451Leu | |
| ENST00000330883.8:c.332C>T | ENSP00000328531.4:p.Pro111Leu | |
| ENST00000430723.4:c.1004C>T | ENSP00000387657.4:p.Pro335Leu | |
| ENST00000461280.1:n.639C>T | ||
| ENST00000473610.5:n.657C>T | ||
| ENST00000532957.5:n.1575C>T | ||
| NM_000238.3:c.1352C>T , LRG_288t1:c.1352C>T | NP_000229.1:p.Pro451Leu | |
| NM_001204798.1:c.332C>T | NP_001191727.1:p.Pro111Leu | |
| NM_172056.2:c.1352C>T , LRG_288t2:c.1352C>T | NP_742053.1:p.Pro451Leu | |
| NM_172057.2:c.332C>T , LRG_288t3:c.332C>T | NP_742054.1:p.Pro111Leu | |
| XM_011516185.1:c.1052C>T | XP_011514487.1:p.Pro351Leu | |
| XM_011516186.1:c.1352C>T | XP_011514488.1:p.Pro451Leu | |
| XM_011516185.2:c.1052C>T | XP_011514487.1:p.Pro351Leu | |
| XM_011516186.3:c.1352C>T | XP_011514488.1:p.Pro451Leu | |
| XM_017012195.1:c.1202C>T | XP_016867684.1:p.Pro401Leu | |
| XM_017012196.1:c.1175C>T | XP_016867685.1:p.Pro392Leu | |
| NM_000238.4:c.1352C>T MANE Select | NP_000229.1:p.Pro451Leu | |
| NM_001204798.2:c.332C>T | NP_001191727.1:p.Pro111Leu | |
| NM_172057.3:c.332C>T | NP_742054.1:p.Pro111Leu |