Linked Data
ClinVar Variation Id:
200354
dbSNP Id:
rs370637245
ExAC:
7:150649545 C / T
gnomAD v2:
7-150649545-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150952457C>T , CM000669.2:g.150952457C>T | GRCh38 |
| NC_000007.13:g.150649545C>T , CM000669.1:g.150649545C>T | GRCh37 |
| NC_000007.12:g.150280478C>T | NCBI36 |
| NG_008916.1:g.30470G>A , LRG_288:g.30470G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.823G>A | ||
| ENST00000684116.1:n.418G>A | ||
| ENST00000684241.1:n.2358G>A | ||
| ENST00000262186.10:c.1525G>A MANE Select | ENSP00000262186.5:p.Asp509Asn | |
| ENST00000330883.9:c.505G>A | ENSP00000328531.4:p.Asp169Asn | |
| ENST00000262186.9:c.1525G>A | ENSP00000262186.5:p.Asp509Asn | |
| ENST00000330883.8:c.505G>A | ENSP00000328531.4:p.Asp169Asn | |
| ENST00000430723.4:c.1177G>A | ENSP00000387657.4:p.Asp393Asn | |
| ENST00000461280.1:n.812G>A | ||
| ENST00000473610.5:n.830G>A | ||
| ENST00000532957.5:n.1748G>A | ||
| NM_000238.3:c.1525G>A , LRG_288t1:c.1525G>A | NP_000229.1:p.Asp509Asn | |
| NM_001204798.1:c.505G>A | NP_001191727.1:p.Asp169Asn | |
| NM_172056.2:c.1525G>A , LRG_288t2:c.1525G>A | NP_742053.1:p.Asp509Asn | |
| NM_172057.2:c.505G>A , LRG_288t3:c.505G>A | NP_742054.1:p.Asp169Asn | |
| XM_011516185.1:c.1225G>A | XP_011514487.1:p.Asp409Asn | |
| XM_011516186.1:c.1525G>A | XP_011514488.1:p.Asp509Asn | |
| XM_011516185.2:c.1225G>A | XP_011514487.1:p.Asp409Asn | |
| XM_011516186.3:c.1525G>A | XP_011514488.1:p.Asp509Asn | |
| XM_017012195.1:c.1375G>A | XP_016867684.1:p.Asp459Asn | |
| XM_017012196.1:c.1348G>A | XP_016867685.1:p.Asp450Asn | |
| NM_000238.4:c.1525G>A MANE Select | NP_000229.1:p.Asp509Asn | |
| NM_001204798.2:c.505G>A | NP_001191727.1:p.Asp169Asn | |
| NM_172057.3:c.505G>A | NP_742054.1:p.Asp169Asn |