Linked Data
ClinVar Variation Id:
17023
ClinVar RCV Id:
RCV000018550
RCV000080365
RCV000211759
RCV000146005
RCV000515287
RCV001002768
RCV001004396
RCV001270106
RCV002286402
RCV002514109
RCV003458337
RCV003335045
dbSNP Id:
rs72474224
ExAC:
13:20763612 C / T
gnomAD v2:
13-20763612-C-T
gnomAD v3:
13-20189473-C-T
gnomAD v4:
13-20189473-C-T
ERepo:
CA172210/MONDO:0019497/005
PubMed:
PMID:9529365
PMID:10607953
PMID:10633133
PMID:10830906
PMID:10982180
PMID:11746015
PMID:12121355
PMID:12505163
PMID:12560944
PMID:12786758
PMID:12792423
PMID:14722929
PMID:15070423
PMID:15479191
PMID:16300957
PMID:16380907
PMID:16840571
PMID:17036313
PMID:17041943
PMID:17935238
PMID:19043807
PMID:19586875
PMID:19707039
PMID:20301449
PMID:21811586
PMID:21815880
PMID:22106692
PMID:22574200
PMID:22613756
PMID:22695344
PMID:22975760
PMID:22995991
PMID:23554706
PMID:23637863
PMID:23638949
PMID:23680645
PMID:23856378
PMID:23873582
PMID:23891399
PMID:24529908
PMID:24645897
PMID:24654934
PMID:24737404
PMID:24814571
PMID:25326637
PMID:26061099
PMID:26061264
PMID:26330914
PMID:26832775
PMID:26885124
PMID:26896187
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189473C>T , CM000675.2:g.20189473C>T | GRCh38 |
| NC_000013.10:g.20763612C>T , CM000675.1:g.20763612C>T | GRCh37 |
| NC_000013.9:g.19661612C>T | NCBI36 |
| NG_008358.1:g.8503G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.109G>A | ENSP00000372295.1:p.Val37Ile | |
| ENST00000382848.5:c.109G>A MANE Select | ENSP00000372299.4:p.Val37Ile | |
| ENST00000382844.1:c.109G>A | ENSP00000372295.1:p.Val37Ile | |
| ENST00000382848.4:c.109G>A | ENSP00000372299.4:p.Val37Ile | |
| NM_004004.5:c.109G>A | NP_003995.2:p.Val37Ile | |
| XM_011535049.1:c.109G>A | XP_011533351.1:p.Val37Ile | |
| XM_011535049.2:c.109G>A | XP_011533351.1:p.Val37Ile | |
| NM_004004.6:c.109G>A MANE Select | NP_003995.2:p.Val37Ile |