Linked Data
ClinVar Variation Id:
386333
dbSNP Id:
rs757055211
ExAC:
7:150654547 C / T
gnomAD v2:
7-150654547-C-T
gnomAD v3:
7-150957459-C-T
gnomAD v4:
7-150957459-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150957459C>T , CM000669.2:g.150957459C>T | GRCh38 |
| NC_000007.13:g.150654547C>T , CM000669.1:g.150654547C>T | GRCh37 |
| NC_000007.12:g.150285480C>T | NCBI36 |
| NG_008916.1:g.25468G>A , LRG_288:g.25468G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1793G>A | ||
| ENST00000262186.10:c.960G>A MANE Select | ENSP00000262186.5:p.Ser320= | |
| ENST00000262186.9:c.960G>A | ENSP00000262186.5:p.Ser320= | |
| ENST00000430723.4:c.612G>A | ENSP00000387657.4:p.Ser204= | |
| ENST00000532957.5:n.1183G>A | ||
| NM_000238.3:c.960G>A , LRG_288t1:c.960G>A | NP_000229.1:p.Ser320= | |
| NM_172056.2:c.960G>A , LRG_288t2:c.960G>A | NP_742053.1:p.Ser320= | |
| XM_011516185.1:c.660G>A | XP_011514487.1:p.Ser220= | |
| XM_011516186.1:c.960G>A | XP_011514488.1:p.Ser320= | |
| XM_011516185.2:c.660G>A | XP_011514487.1:p.Ser220= | |
| XM_011516186.3:c.960G>A | XP_011514488.1:p.Ser320= | |
| XM_017012195.1:c.810G>A | XP_016867684.1:p.Ser270= | |
| XM_017012196.1:c.783G>A | XP_016867685.1:p.Ser261= | |
| NM_000238.4:c.960G>A MANE Select | NP_000229.1:p.Ser320= |