Linked Data
dbSNP Id:
rs769505732
ExAC:
7:150649784 G / A
gnomAD v2:
7-150649784-G-A
gnomAD v4:
7-150952696-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150952696G>A , CM000669.2:g.150952696G>A | GRCh38 |
| NC_000007.13:g.150649784G>A , CM000669.1:g.150649784G>A | GRCh37 |
| NC_000007.12:g.150280717G>A | NCBI36 |
| NG_008916.1:g.30231C>T , LRG_288:g.30231C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.584C>T | ||
| ENST00000684116.1:n.179C>T | ||
| ENST00000684241.1:n.2119C>T | ||
| ENST00000262186.10:c.1286C>T MANE Select | ENSP00000262186.5:p.Ala429Val | |
| ENST00000330883.9:c.266C>T | ENSP00000328531.4:p.Ala89Val | |
| ENST00000262186.9:c.1286C>T | ENSP00000262186.5:p.Ala429Val | |
| ENST00000330883.8:c.266C>T | ENSP00000328531.4:p.Ala89Val | |
| ENST00000430723.4:c.938C>T | ENSP00000387657.4:p.Ala313Val | |
| ENST00000461280.1:n.573C>T | ||
| ENST00000473610.5:n.591C>T | ||
| ENST00000532957.5:n.1509C>T | ||
| NM_000238.3:c.1286C>T , LRG_288t1:c.1286C>T | NP_000229.1:p.Ala429Val | |
| NM_001204798.1:c.266C>T | NP_001191727.1:p.Ala89Val | |
| NM_172056.2:c.1286C>T , LRG_288t2:c.1286C>T | NP_742053.1:p.Ala429Val | |
| NM_172057.2:c.266C>T , LRG_288t3:c.266C>T | NP_742054.1:p.Ala89Val | |
| XM_011516185.1:c.986C>T | XP_011514487.1:p.Ala329Val | |
| XM_011516186.1:c.1286C>T | XP_011514488.1:p.Ala429Val | |
| XM_011516185.2:c.986C>T | XP_011514487.1:p.Ala329Val | |
| XM_011516186.3:c.1286C>T | XP_011514488.1:p.Ala429Val | |
| XM_017012195.1:c.1136C>T | XP_016867684.1:p.Ala379Val | |
| XM_017012196.1:c.1109C>T | XP_016867685.1:p.Ala370Val | |
| NM_000238.4:c.1286C>T MANE Select | NP_000229.1:p.Ala429Val | |
| NM_001204798.2:c.266C>T | NP_001191727.1:p.Ala89Val | |
| NM_172057.3:c.266C>T | NP_742054.1:p.Ala89Val |