Linked Data
ClinVar Variation Id:
630018
ClinVar RCV Id:
RCV001841965
dbSNP Id:
rs536958259
ExAC:
7:150647101 G / T
gnomAD v2:
7-150647101-G-T
gnomAD v3:
7-150950013-G-T
gnomAD v4:
7-150950013-G-T
COSMIC:
COSM452615
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150950013G>T , CM000669.2:g.150950013G>T | GRCh38 |
| NC_000007.13:g.150647101G>T , CM000669.1:g.150647101G>T | GRCh37 |
| NC_000007.12:g.150278034G>T | NCBI36 |
| NG_008916.1:g.32914C>A , LRG_288:g.32914C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1851C>A | ||
| ENST00000684241.1:n.3231+155C>A | ||
| ENST00000262186.10:c.2398+155C>A MANE Select | ENSP00000262186.5:n.2398+155C>A | |
| ENST00000330883.9:c.1378+155C>A | ENSP00000328531.4:n.1378+155C>A | |
| ENST00000262186.9:c.2398+155C>A | ENSP00000262186.5:n.2398+155C>A | |
| ENST00000330883.8:c.1378+155C>A | ENSP00000328531.4:n.1378+155C>A | |
| ENST00000430723.4:c.2205C>A | ENSP00000387657.4:p.Ser735Arg | |
| ENST00000461280.1:n.1840C>A | ||
| ENST00000473610.5:n.2185C>A | ||
| ENST00000532957.5:n.2776C>A | ||
| NM_000238.3:c.2398+155C>A , LRG_288t1:c.2398+155C>A | NP_000229.1:n.2398+155C>A | |
| NM_001204798.1:c.1533C>A | NP_001191727.1:p.Ser511Arg | |
| NM_172056.2:c.2553C>A , LRG_288t2:c.2553C>A | NP_742053.1:p.Ser851Arg | |
| NM_172057.2:c.1378+155C>A , LRG_288t3:c.1378+155C>A | NP_742054.1:n.1378+155C>A | |
| XM_011516185.1:c.2098+155C>A | XP_011514487.1:n.2098+155C>A | |
| XM_011516186.1:c.2398+155C>A | XP_011514488.1:n.2398+155C>A | |
| XM_011516185.2:c.2098+155C>A | XP_011514487.1:n.2098+155C>A | |
| XM_011516186.3:c.2398+155C>A | XP_011514488.1:n.2398+155C>A | |
| XM_017012195.1:c.2248+155C>A | XP_016867684.1:n.2248+155C>A | |
| XM_017012196.1:c.2221+155C>A | XP_016867685.1:n.2221+155C>A | |
| NM_000238.4:c.2398+155C>A MANE Select | NP_000229.1:n.2398+155C>A | |
| NM_001204798.2:c.1533C>A | NP_001191727.1:p.Ser511Arg | |
| NM_172057.3:c.1378+155C>A | NP_742054.1:n.1378+155C>A |