Linked Data
ClinVar Variation Id:
183733
ClinVar RCV Id:
RCV000162438
RCV000196213
RCV000589285
RCV000764159
RCV001123230
RCV001123231
RCV002285148
RCV002310723
RCV001328507
RCV002468936
RCV003398830
dbSNP Id:
rs372316981
ExAC:
18:48573436 C / T
gnomAD v2:
18-48573436-C-T
gnomAD v3:
18-51047066-C-T
gnomAD v4:
18-51047066-C-T
PubMed:
PMID:25559809
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51047066C>T , CM000680.2:g.51047066C>T | GRCh38 |
| NC_000018.9:g.48573436C>T , CM000680.1:g.48573436C>T | GRCh37 |
| NC_000018.8:g.46827434C>T | NCBI36 |
| NG_013013.2:g.84027C>T , LRG_318:g.84027C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.20C>T | ENSP00000465878.2:p.Thr7Met | |
| ENST00000589076.6:c.20C>T | ENSP00000466934.2:p.Thr7Met | |
| ENST00000589941.2:c.20C>T | ENSP00000465874.2:p.Thr7Met | |
| ENST00000590061.2:c.20C>T | ENSP00000464772.2:p.Thr7Met | |
| ENST00000593223.2:c.20C>T | ENSP00000466118.2:p.Thr7Met | |
| ENST00000611848.2:c.20C>T | ENSP00000478613.2:p.Thr7Met | |
| ENST00000342988.8:c.20C>T MANE Select | ENSP00000341551.3:p.Thr7Met | |
| ENST00000342988.7:c.20C>T | ENSP00000341551.3:p.Thr7Met | |
| ENST00000398417.6:c.20C>T | ENSP00000381452.1:p.Thr7Met | |
| ENST00000588256.1:n.481C>T | ||
| ENST00000588745.5:c.20C>T | ENSP00000464901.1:p.Thr7Met | |
| ENST00000588860.5:c.20C>T | ENSP00000465878.1:p.Thr7Met | |
| ENST00000589076.5:c.20C>T | ENSP00000466934.1:p.Thr7Met | |
| ENST00000589941.1:c.20C>T | ENSP00000465874.1:p.Thr7Met | |
| ENST00000590061.1:c.20C>T | ENSP00000464772.1:p.Thr7Met | |
| ENST00000590722.2:c.*43C>T | ENSP00000465737.1:n.*43C>T | |
| ENST00000591914.5:c.20C>T | ENSP00000466941.1:p.Thr7Met | |
| ENST00000592186.5:c.20C>T | ENSP00000468611.1:p.Thr7Met | |
| ENST00000592911.5:n.28-1620C>T | ||
| NM_005359.5:c.20C>T , LRG_318t1:c.20C>T | NP_005350.1:p.Thr7Met | |
| NM_005359.6:c.20C>T MANE Select | NP_005350.1:p.Thr7Met |