Linked Data
ClinVar Variation Id:
669612
dbSNP Id:
rs750281789
ExAC:
7:150647246 C / T
gnomAD v2:
7-150647246-C-T
gnomAD v4:
7-150950158-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150950158C>T , CM000669.2:g.150950158C>T | GRCh38 |
| NC_000007.13:g.150647246C>T , CM000669.1:g.150647246C>T | GRCh37 |
| NC_000007.12:g.150278179C>T | NCBI36 |
| NG_008916.1:g.32769G>A , LRG_288:g.32769G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1706G>A | ||
| ENST00000684241.1:n.3231+10G>A | ||
| ENST00000262186.10:c.2398+10G>A MANE Select | ENSP00000262186.5:n.2398+10G>A | |
| ENST00000330883.9:c.1378+10G>A | ENSP00000328531.4:n.1378+10G>A | |
| ENST00000262186.9:c.2398+10G>A | ENSP00000262186.5:n.2398+10G>A | |
| ENST00000330883.8:c.1378+10G>A | ENSP00000328531.4:n.1378+10G>A | |
| ENST00000430723.4:c.2060G>A | ENSP00000387657.4:p.Trp687Ter | |
| ENST00000461280.1:n.1695G>A | ||
| ENST00000473610.5:n.2040G>A | ||
| ENST00000532957.5:n.2631G>A | ||
| NM_000238.3:c.2398+10G>A , LRG_288t1:c.2398+10G>A | NP_000229.1:n.2398+10G>A | |
| NM_001204798.1:c.1388G>A | NP_001191727.1:p.Trp463Ter | |
| NM_172056.2:c.2408G>A , LRG_288t2:c.2408G>A | NP_742053.1:p.Trp803Ter | |
| NM_172057.2:c.1378+10G>A , LRG_288t3:c.1378+10G>A | NP_742054.1:n.1378+10G>A | |
| XM_011516185.1:c.2098+10G>A | XP_011514487.1:n.2098+10G>A | |
| XM_011516186.1:c.2398+10G>A | XP_011514488.1:n.2398+10G>A | |
| XM_011516185.2:c.2098+10G>A | XP_011514487.1:n.2098+10G>A | |
| XM_011516186.3:c.2398+10G>A | XP_011514488.1:n.2398+10G>A | |
| XM_017012195.1:c.2248+10G>A | XP_016867684.1:n.2248+10G>A | |
| XM_017012196.1:c.2221+10G>A | XP_016867685.1:n.2221+10G>A | |
| NM_000238.4:c.2398+10G>A MANE Select | NP_000229.1:n.2398+10G>A | |
| NM_001204798.2:c.1388G>A | NP_001191727.1:p.Trp463Ter | |
| NM_172057.3:c.1378+10G>A | NP_742054.1:n.1378+10G>A |