Linked Data
ClinVar Variation Id:
31193
ClinVar RCV Id:
RCV000024192
dbSNP Id:
rs1064792853
gnomAD v4:
8-95263776-T-C
PubMed:
PMID:22177090
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.95263776T>C , CM000670.2:g.95263776T>C | GRCh38 |
| NC_000008.10:g.96276004T>C , CM000670.1:g.96276004T>C | GRCh37 |
| NC_000008.9:g.96345180T>C | NCBI36 |
| NG_032804.1:g.10459A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286688.6:c.156-2A>G MANE Select | ENSP00000286688.5:n.156-2A>G | |
| ENST00000286688.5:c.156-2A>G | ENSP00000286688.5:n.156-2A>G | |
| NM_177965.3:c.156-2A>G | NP_808880.1:n.156-2A>G | |
| XM_005250799.2:c.495-2A>G | XP_005250856.2:n.495-2A>G | |
| NM_001363260.1:c.156-2A>G | NP_001350189.1:n.156-2A>G | |
| NM_177965.4:c.156-2A>G MANE Select | NP_808880.1:n.156-2A>G |