Linked Data
ClinVar Variation Id:
67509
ClinVar RCV Id:
RCV000058238
RCV000157257
RCV000181761
RCV000199086
RCV000617719
RCV001196177
RCV002222158
dbSNP Id:
rs36210422
ExAC:
7:150655537 G / A
gnomAD v2:
7-150655537-G-A
gnomAD v3:
7-150958449-G-A
gnomAD v4:
7-150958449-G-A
PubMed:
PMID:10483966
PMID:10862094
PMID:14661677
PMID:15176425
PMID:15541256
PMID:16754261
PMID:16818214
PMID:17161064
PMID:17222736
PMID:19160088
PMID:19673885
PMID:19841300
PMID:19862833
PMID:20875080
PMID:21244686
PMID:21956039
PMID:22052944
PMID:22067087
PMID:22402074
PMID:22429796
PMID:22581653
PMID:22659597
PMID:22677073
PMID:22949429
PMID:23098067
PMID:23193492
PMID:23303164
PMID:23631430
PMID:24606995
PMID:25351510
PMID:25467552
PMID:25554238
PMID:26063740
PMID:26749013
PMID:27026928
PMID:27064559
PMID:27650965
PMID:28003625
PMID:28255936
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150958449G>A , CM000669.2:g.150958449G>A | GRCh38 |
| NC_000007.13:g.150655537G>A , CM000669.1:g.150655537G>A | GRCh37 |
| NC_000007.12:g.150286470G>A | NCBI36 |
| NG_008916.1:g.24478C>T , LRG_288:g.24478C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1359C>T | ||
| ENST00000262186.10:c.526C>T MANE Select | ENSP00000262186.5:p.Arg176Trp | |
| ENST00000262186.9:c.526C>T | ENSP00000262186.5:p.Arg176Trp | |
| ENST00000430723.4:c.235-57C>T | ENSP00000387657.4:n.235-57C>T | |
| ENST00000532957.5:n.749C>T | ||
| NM_000238.3:c.526C>T , LRG_288t1:c.526C>T | NP_000229.1:p.Arg176Trp | |
| NM_172056.2:c.526C>T , LRG_288t2:c.526C>T | NP_742053.1:p.Arg176Trp | |
| XM_011516185.1:c.226C>T | XP_011514487.1:p.Arg76Trp | |
| XM_011516186.1:c.526C>T | XP_011514488.1:p.Arg176Trp | |
| XM_011516185.2:c.226C>T | XP_011514487.1:p.Arg76Trp | |
| XM_011516186.3:c.526C>T | XP_011514488.1:p.Arg176Trp | |
| XM_017012195.1:c.376C>T | XP_016867684.1:p.Arg126Trp | |
| XM_017012196.1:c.349C>T | XP_016867685.1:p.Arg117Trp | |
| NM_000238.4:c.526C>T MANE Select | NP_000229.1:p.Arg176Trp |