Linked Data
ClinVar Variation Id:
2356
ClinVar RCV Id:
RCV000002450
RCV000032523
RCV000174625
RCV000239000
RCV000404009
RCV000504814
RCV000505146
RCV000623925
dbSNP Id:
rs80338902
ExAC:
1:216420460 C / A
gnomAD v2:
1-216420460-C-A
gnomAD v3:
1-216247118-C-A
gnomAD v4:
1-216247118-C-A
PubMed:
PMID:10729113
PMID:10775529
PMID:10909849
PMID:11311042
PMID:12112664
PMID:12427073
PMID:12525556
PMID:14970843
PMID:15325563
PMID:16098008
PMID:17085681
PMID:17296898
PMID:17405132
PMID:18273898
PMID:18641288
PMID:18665195
PMID:19683999
PMID:20145675
PMID:20301515
PMID:21151602
PMID:21174530
PMID:21234346
PMID:21738395
PMID:22004887
PMID:22495311
PMID:23352160
PMID:23591405
PMID:23891399
PMID:24160897
PMID:24944099
PMID:25326637
PMID:25375654
PMID:25649381
PMID:25823529
PMID:28041643
ERepo:
CA252233/MONDO:0019501/005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216247118C>A , CM000663.2:g.216247118C>A | GRCh38 |
| NC_000001.10:g.216420460C>A , CM000663.1:g.216420460C>A | GRCh37 |
| NC_000001.9:g.214487083C>A | NCBI36 |
| NG_009497.1:g.181279G>T | |
| NG_009497.2:g.181331G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307340.8:c.2276G>T MANE Select | ENSP00000305941.3:p.Cys759Phe | |
| ENST00000674083.1:c.2276G>T | ENSP00000501296.1:p.Cys759Phe | |
| ENST00000307340.7:c.2276G>T | ENSP00000305941.3:p.Cys759Phe | |
| ENST00000366942.3:c.2276G>T | ENSP00000355909.3:p.Cys759Phe | |
| NM_007123.5:c.2276G>T | NP_009054.5:p.Cys759Phe | |
| NM_206933.2:c.2276G>T | NP_996816.2:p.Cys759Phe | |
| NM_206933.3:c.2276G>T | NP_996816.2:p.Cys759Phe | |
| NM_007123.6:c.2276G>T | NP_009054.6:p.Cys759Phe | |
| NM_206933.4:c.2276G>T MANE Select | NP_996816.3:p.Cys759Phe |