Linked Data
ClinVar Variation Id:
6054
dbSNP Id:
rs74315448
ExAC:
21:35742947 T / C
gnomAD v2:
21-35742947-T-C
gnomAD v3:
21-34370648-T-C
gnomAD v4:
21-34370648-T-C
PubMed:
PMID:10219239
PMID:10973849
PMID:10984545
PMID:11034315
PMID:11101505
PMID:14760488
PMID:15084216
PMID:16922724
PMID:19219384
PMID:19716085
PMID:19841298
PMID:19863579
PMID:20042375
PMID:21143119
PMID:22378279
PMID:22581653
PMID:23098067
PMID:23382499
PMID:23861362
PMID:24055113
PMID:24144883
PMID:24606995
PMID:24631775
PMID:24796621
PMID:25351510
PMID:25637381
PMID:26159999
PMID:26284702
PMID:27884173
PMID:28341588
PMID:28794082
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370648T>C , CM000683.2:g.34370648T>C | GRCh38 |
| NC_000021.8:g.35742947T>C , CM000683.1:g.35742947T>C | GRCh37 |
| NC_000021.7:g.34664817T>C | NCBI36 |
| NG_008804.1:g.11625T>C , LRG_291:g.11625T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290310.4:c.170T>C MANE Select | ENSP00000290310.2:p.Ile57Thr | |
| ENST00000290310.3:c.170T>C | ENSP00000290310.2:p.Ile57Thr | |
| NM_172201.1:c.170T>C , LRG_291t1:c.170T>C | NP_751951.1:p.Ile57Thr | |
| XR_937683.1:n.673A>G | ||
| XR_937684.1:n.673A>G | ||
| XR_001755012.2:n.794A>G | ||
| XR_001755013.2:n.673A>G | ||
| XR_937683.2:n.673A>G | ||
| NM_172201.2:c.170T>C MANE Select | NP_751951.1:p.Ile57Thr |