Linked Data
ClinVar Variation Id:
56022
ClinVar RCV Id:
RCV000049431
dbSNP Id:
rs386833503
PubMed:
PMID:11241838
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149977983G>T , CM000667.2:g.149977983G>T | GRCh38 |
| NC_000005.9:g.149357546G>T , CM000667.1:g.149357546G>T | GRCh37 |
| NC_000005.8:g.149337739G>T | NCBI36 |
| NG_007147.2:g.19101G>T , LRG_684:g.19101G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.563G>T | ||
| ENST00000286298.5:c.331G>T MANE Select | ENSP00000286298.4:p.Asp111Tyr | |
| ENST00000286298.4:c.331G>T | ENSP00000286298.4:p.Asp111Tyr | |
| ENST00000503336.1:c.4G>T | ENSP00000426053.1:p.Asp2Tyr | |
| NM_000112.3:c.331G>T , LRG_684t1:c.331G>T | NP_000103.2:p.Asp111Tyr | |
| XM_017009191.2:c.331G>T | XP_016864680.1:p.Asp111Tyr | |
| NM_000112.4:c.331G>T MANE Select | NP_000103.2:p.Asp111Tyr |