Linked Data
ClinVar Variation Id:
921807
ClinVar RCV Id:
RCV001843096
dbSNP Id:
rs768415161
ExAC:
7:150647197 C / T
gnomAD v2:
7-150647197-C-T
gnomAD v4:
7-150950109-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150950109C>T , CM000669.2:g.150950109C>T | GRCh38 |
| NC_000007.13:g.150647197C>T , CM000669.1:g.150647197C>T | GRCh37 |
| NC_000007.12:g.150278130C>T | NCBI36 |
| NG_008916.1:g.32818G>A , LRG_288:g.32818G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1755G>A | ||
| ENST00000684241.1:n.3231+59G>A | ||
| ENST00000262186.10:c.2398+59G>A MANE Select | ENSP00000262186.5:n.2398+59G>A | |
| ENST00000330883.9:c.1378+59G>A | ENSP00000328531.4:n.1378+59G>A | |
| ENST00000262186.9:c.2398+59G>A | ENSP00000262186.5:n.2398+59G>A | |
| ENST00000330883.8:c.1378+59G>A | ENSP00000328531.4:n.1378+59G>A | |
| ENST00000430723.4:c.2109G>A | ENSP00000387657.4:p.Ala703= | |
| ENST00000461280.1:n.1744G>A | ||
| ENST00000473610.5:n.2089G>A | ||
| ENST00000532957.5:n.2680G>A | ||
| NM_000238.3:c.2398+59G>A , LRG_288t1:c.2398+59G>A | NP_000229.1:n.2398+59G>A | |
| NM_001204798.1:c.1437G>A | NP_001191727.1:p.Ala479= | |
| NM_172056.2:c.2457G>A , LRG_288t2:c.2457G>A | NP_742053.1:p.Ala819= | |
| NM_172057.2:c.1378+59G>A , LRG_288t3:c.1378+59G>A | NP_742054.1:n.1378+59G>A | |
| XM_011516185.1:c.2098+59G>A | XP_011514487.1:n.2098+59G>A | |
| XM_011516186.1:c.2398+59G>A | XP_011514488.1:n.2398+59G>A | |
| XM_011516185.2:c.2098+59G>A | XP_011514487.1:n.2098+59G>A | |
| XM_011516186.3:c.2398+59G>A | XP_011514488.1:n.2398+59G>A | |
| XM_017012195.1:c.2248+59G>A | XP_016867684.1:n.2248+59G>A | |
| XM_017012196.1:c.2221+59G>A | XP_016867685.1:n.2221+59G>A | |
| NM_000238.4:c.2398+59G>A MANE Select | NP_000229.1:n.2398+59G>A | |
| NM_001204798.2:c.1437G>A | NP_001191727.1:p.Ala479= | |
| NM_172057.3:c.1378+59G>A | NP_742054.1:n.1378+59G>A |