Linked Data
ClinVar Variation Id:
31192
ClinVar RCV Id:
RCV000024191
dbSNP Id:
rs1064792852
gnomAD v2:
8-96259972-A-T
PubMed:
PMID:22177090
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.95247744A>T , CM000670.2:g.95247744A>T | GRCh38 |
| NC_000008.10:g.96259972A>T , CM000670.1:g.96259972A>T | GRCh37 |
| NC_000008.9:g.96329148A>T | NCBI36 |
| NG_032804.1:g.26491T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286688.6:c.497T>A MANE Select | ENSP00000286688.5:p.Leu166Ter | |
| ENST00000286688.5:c.497T>A | ENSP00000286688.5:p.Leu166Ter | |
| NM_177965.3:c.497T>A | NP_808880.1:p.Leu166Ter | |
| XM_005250799.2:c.740T>A | XP_005250856.2:p.Leu247Ter | |
| NM_001363260.1:c.401T>A | NP_001350189.1:p.Leu134Ter | |
| NM_177965.4:c.497T>A MANE Select | NP_808880.1:p.Leu166Ter |