Linked Data
ClinVar Variation Id:
3069818
ClinVar RCV Id:
RCV004009850
dbSNP Id:
rs779248403
ExAC:
7:150654515 C / T
gnomAD v2:
7-150654515-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150957427C>T , CM000669.2:g.150957427C>T | GRCh38 |
| NC_000007.13:g.150654515C>T , CM000669.1:g.150654515C>T | GRCh37 |
| NC_000007.12:g.150285448C>T | NCBI36 |
| NG_008916.1:g.25500G>A , LRG_288:g.25500G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1825G>A | ||
| ENST00000262186.10:c.992G>A MANE Select | ENSP00000262186.5:p.Ser331Asn | |
| ENST00000262186.9:c.992G>A | ENSP00000262186.5:p.Ser331Asn | |
| ENST00000430723.4:c.644G>A | ENSP00000387657.4:p.Ser215Asn | |
| ENST00000532957.5:n.1215G>A | ||
| NM_000238.3:c.992G>A , LRG_288t1:c.992G>A | NP_000229.1:p.Ser331Asn | |
| NM_172056.2:c.992G>A , LRG_288t2:c.992G>A | NP_742053.1:p.Ser331Asn | |
| XM_011516185.1:c.692G>A | XP_011514487.1:p.Ser231Asn | |
| XM_011516186.1:c.992G>A | XP_011514488.1:p.Ser331Asn | |
| XM_011516185.2:c.692G>A | XP_011514487.1:p.Ser231Asn | |
| XM_011516186.3:c.992G>A | XP_011514488.1:p.Ser331Asn | |
| XM_017012195.1:c.842G>A | XP_016867684.1:p.Ser281Asn | |
| XM_017012196.1:c.815G>A | XP_016867685.1:p.Ser272Asn | |
| NM_000238.4:c.992G>A MANE Select | NP_000229.1:p.Ser331Asn |