Linked Data
ClinVar Variation Id:
162146
ClinVar RCV Id:
RCV000190296
dbSNP Id:
rs10895322
gnomAD v2:
11-102470256-A-G
gnomAD v3:
11-102599525-A-G
gnomAD v4:
11-102599525-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102599525A>G , CM000673.2:g.102599525A>G | GRCh38 |
| NC_000011.9:g.102470256A>G , CM000673.1:g.102470256A>G | GRCh37 |
| NC_000011.8:g.101975466A>G | NCBI36 |
| NG_012151.1:g.30808T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260228.3:c.954-4768T>C MANE Select | ENSP00000260228.2:n.954-4768T>C | |
| ENST00000260228.2:c.954-4768T>C | ENSP00000260228.2:n.954-4768T>C | |
| ENST00000544938.1:n.593-4768T>C | ||
| NM_004771.3:c.954-4768T>C | NP_004762.2:n.954-4768T>C | |
| NM_004771.4:c.954-4768T>C MANE Select | NP_004762.2:n.954-4768T>C |