Linked Data
ClinVar Variation Id:
1122410
ClinVar RCV Id:
RCV001453074
dbSNP Id:
rs759310358
ExAC:
7:150649663 G / T
gnomAD v2:
7-150649663-G-T
gnomAD v4:
7-150952575-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150952575G>T , CM000669.2:g.150952575G>T | GRCh38 |
| NC_000007.13:g.150649663G>T , CM000669.1:g.150649663G>T | GRCh37 |
| NC_000007.12:g.150280596G>T | NCBI36 |
| NG_008916.1:g.30352C>A , LRG_288:g.30352C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461280.2:n.705C>A | ||
| ENST00000684116.1:n.300C>A | ||
| ENST00000684241.1:n.2240C>A | ||
| ENST00000262186.10:c.1407C>A MANE Select | ENSP00000262186.5:p.Ile469= | |
| ENST00000330883.9:c.387C>A | ENSP00000328531.4:p.Ile129= | |
| ENST00000262186.9:c.1407C>A | ENSP00000262186.5:p.Ile469= | |
| ENST00000330883.8:c.387C>A | ENSP00000328531.4:p.Ile129= | |
| ENST00000430723.4:c.1059C>A | ENSP00000387657.4:p.Ile353= | |
| ENST00000461280.1:n.694C>A | ||
| ENST00000473610.5:n.712C>A | ||
| ENST00000532957.5:n.1630C>A | ||
| NM_000238.3:c.1407C>A , LRG_288t1:c.1407C>A | NP_000229.1:p.Ile469= | |
| NM_001204798.1:c.387C>A | NP_001191727.1:p.Ile129= | |
| NM_172056.2:c.1407C>A , LRG_288t2:c.1407C>A | NP_742053.1:p.Ile469= | |
| NM_172057.2:c.387C>A , LRG_288t3:c.387C>A | NP_742054.1:p.Ile129= | |
| XM_011516185.1:c.1107C>A | XP_011514487.1:p.Ile369= | |
| XM_011516186.1:c.1407C>A | XP_011514488.1:p.Ile469= | |
| XM_011516185.2:c.1107C>A | XP_011514487.1:p.Ile369= | |
| XM_011516186.3:c.1407C>A | XP_011514488.1:p.Ile469= | |
| XM_017012195.1:c.1257C>A | XP_016867684.1:p.Ile419= | |
| XM_017012196.1:c.1230C>A | XP_016867685.1:p.Ile410= | |
| NM_000238.4:c.1407C>A MANE Select | NP_000229.1:p.Ile469= | |
| NM_001204798.2:c.387C>A | NP_001191727.1:p.Ile129= | |
| NM_172057.3:c.387C>A | NP_742054.1:p.Ile129= |