Linked Data
ClinVar Variation Id:
14433
ClinVar RCV Id:
RCV000015514
RCV000058108
RCV000208497
RCV001262685
RCV001841245
RCV001851875
RCV002223758
RCV003162252
RCV004549372
dbSNP Id:
rs12720441
gnomAD v2:
7-150647304-G-A
gnomAD v3:
7-150950216-G-A
gnomAD v4:
7-150950216-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150950216G>A , CM000669.2:g.150950216G>A | GRCh38 |
| NC_000007.13:g.150647304G>A , CM000669.1:g.150647304G>A | GRCh37 |
| NC_000007.12:g.150278237G>A | NCBI36 |
| NG_008916.1:g.32711C>T , LRG_288:g.32711C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1648C>T | ||
| ENST00000684241.1:n.3183C>T | ||
| ENST00000262186.10:c.2350C>T MANE Select | ENSP00000262186.5:p.Arg784Trp | |
| ENST00000330883.9:c.1330C>T | ENSP00000328531.4:p.Arg444Trp | |
| ENST00000262186.9:c.2350C>T | ENSP00000262186.5:p.Arg784Trp | |
| ENST00000330883.8:c.1330C>T | ENSP00000328531.4:p.Arg444Trp | |
| ENST00000430723.4:c.2002C>T | ENSP00000387657.4:p.Arg668Trp | |
| ENST00000461280.1:n.1637C>T | ||
| ENST00000473610.5:n.1982C>T | ||
| ENST00000532957.5:n.2573C>T | ||
| NM_000238.3:c.2350C>T , LRG_288t1:c.2350C>T | NP_000229.1:p.Arg784Trp | |
| NM_001204798.1:c.1330C>T | NP_001191727.1:p.Arg444Trp | |
| NM_172056.2:c.2350C>T , LRG_288t2:c.2350C>T | NP_742053.1:p.Arg784Trp | |
| NM_172057.2:c.1330C>T , LRG_288t3:c.1330C>T | NP_742054.1:p.Arg444Trp | |
| XM_011516185.1:c.2050C>T | XP_011514487.1:p.Arg684Trp | |
| XM_011516186.1:c.2350C>T | XP_011514488.1:p.Arg784Trp | |
| XM_011516185.2:c.2050C>T | XP_011514487.1:p.Arg684Trp | |
| XM_011516186.3:c.2350C>T | XP_011514488.1:p.Arg784Trp | |
| XM_017012195.1:c.2200C>T | XP_016867684.1:p.Arg734Trp | |
| XM_017012196.1:c.2173C>T | XP_016867685.1:p.Arg725Trp | |
| NM_000238.4:c.2350C>T MANE Select | NP_000229.1:p.Arg784Trp | |
| NM_001204798.2:c.1330C>T | NP_001191727.1:p.Arg444Trp | |
| NM_172057.3:c.1330C>T | NP_742054.1:p.Arg444Trp |