Linked Data
ClinVar Variation Id:
56100
ClinVar RCV Id:
RCV000049509
dbSNP Id:
rs386833582
gnomAD v2:
9-6610267-G-T
PubMed:
PMID:16601880
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6610267G>T , CM000671.2:g.6610267G>T | GRCh38 |
| NC_000009.11:g.6610267G>T , CM000671.1:g.6610267G>T | GRCh37 |
| NC_000009.10:g.6600267G>T | NCBI36 |
| NG_016397.1:g.40426C>A , LRG_643:g.40426C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.560C>A MANE Select | ENSP00000370737.4:p.Thr187Lys | |
| ENST00000639020.1:c.155C>A | ENSP00000491392.1:p.Thr52Lys | |
| ENST00000639364.1:n.260C>A | ||
| ENST00000639840.1:c.266C>A | ENSP00000491161.1:p.Thr89Lys | |
| ENST00000639954.1:n.268C>A | ||
| ENST00000640592.1:n.443C>A | ||
| ENST00000321612.6:c.560C>A | ENSP00000370737.3:p.Thr187Lys | |
| NM_000170.2:c.560C>A , LRG_643t1:c.560C>A | NP_000161.2:p.Thr187Lys | |
| NM_000170.3:c.560C>A MANE Select | NP_000161.2:p.Thr187Lys |