Linked Data
ClinVar Variation Id:
1130838
ClinVar RCV Id:
RCV001464518
dbSNP Id:
rs764083249
ExAC:
7:150645620 G / A
gnomAD v2:
7-150645620-G-A
gnomAD v3:
7-150948532-G-A
gnomAD v4:
7-150948532-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948532G>A , CM000669.2:g.150948532G>A | GRCh38 |
| NC_000007.13:g.150645620G>A , CM000669.1:g.150645620G>A | GRCh37 |
| NC_000007.12:g.150276553G>A | NCBI36 |
| NG_008916.1:g.34395C>T , LRG_288:g.34395C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3437C>T | ||
| ENST00000262186.10:c.2604C>T MANE Select | ENSP00000262186.5:p.Ile868= | |
| ENST00000330883.9:c.1584C>T | ENSP00000328531.4:p.Ile528= | |
| ENST00000262186.9:c.2604C>T | ENSP00000262186.5:p.Ile868= | |
| ENST00000330883.8:c.1584C>T | ENSP00000328531.4:p.Ile528= | |
| NM_000238.3:c.2604C>T , LRG_288t1:c.2604C>T | NP_000229.1:p.Ile868= | |
| NM_172057.2:c.1584C>T , LRG_288t3:c.1584C>T | NP_742054.1:p.Ile528= | |
| XM_011516185.1:c.2304C>T | XP_011514487.1:p.Ile768= | |
| XM_011516186.1:c.2604C>T | XP_011514488.1:p.Ile868= | |
| XM_011516185.2:c.2304C>T | XP_011514487.1:p.Ile768= | |
| XM_011516186.3:c.2604C>T | XP_011514488.1:p.Ile868= | |
| XM_017012195.1:c.2454C>T | XP_016867684.1:p.Ile818= | |
| XM_017012196.1:c.2427C>T | XP_016867685.1:p.Ile809= | |
| NM_000238.4:c.2604C>T MANE Select | NP_000229.1:p.Ile868= | |
| NM_172057.3:c.1584C>T | NP_742054.1:p.Ile528= |