Linked Data
ClinVar Variation Id:
1970790
ClinVar RCV Id:
RCV002735541
dbSNP Id:
rs1204547583
gnomAD v2:
7-150655304-C-T
gnomAD v3:
7-150958216-C-T
gnomAD v4:
7-150958216-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150958216C>T , CM000669.2:g.150958216C>T | GRCh38 |
| NC_000007.13:g.150655304C>T , CM000669.1:g.150655304C>T | GRCh37 |
| NC_000007.12:g.150286237C>T | NCBI36 |
| NG_008916.1:g.24711G>A , LRG_288:g.24711G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1592G>A | ||
| ENST00000262186.10:c.759G>A MANE Select | ENSP00000262186.5:p.Ala253= | |
| ENST00000262186.9:c.759G>A | ENSP00000262186.5:p.Ala253= | |
| ENST00000430723.4:c.411G>A | ENSP00000387657.4:p.Ala137= | |
| ENST00000532957.5:n.982G>A | ||
| NM_000238.3:c.759G>A , LRG_288t1:c.759G>A | NP_000229.1:p.Ala253= | |
| NM_172056.2:c.759G>A , LRG_288t2:c.759G>A | NP_742053.1:p.Ala253= | |
| XM_011516185.1:c.459G>A | XP_011514487.1:p.Ala153= | |
| XM_011516186.1:c.759G>A | XP_011514488.1:p.Ala253= | |
| XM_011516185.2:c.459G>A | XP_011514487.1:p.Ala153= | |
| XM_011516186.3:c.759G>A | XP_011514488.1:p.Ala253= | |
| XM_017012195.1:c.609G>A | XP_016867684.1:p.Ala203= | |
| XM_017012196.1:c.582G>A | XP_016867685.1:p.Ala194= | |
| NM_000238.4:c.759G>A MANE Select | NP_000229.1:p.Ala253= |