Linked Data
ClinVar Variation Id:
2316
dbSNP Id:
rs764313717
ExAC:
11:64525847 T / C
gnomAD v2:
11-64525847-T-C
gnomAD v3:
11-64758375-T-C
gnomAD v4:
11-64758375-T-C
PubMed:
PMID:19433441
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64758375T>C , CM000673.2:g.64758375T>C | GRCh38 |
| NC_000011.9:g.64525847T>C , CM000673.1:g.64525847T>C | GRCh37 |
| NC_000011.8:g.64282423T>C | NCBI36 |
| NG_013018.1:g.7341A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000164139.4:c.425-26A>G MANE Select | ENSP00000164139.3:n.425-26A>G | |
| ENST00000164139.3:c.425-26A>G | ENSP00000164139.3:n.425-26A>G | |
| ENST00000377432.7:c.244-109A>G | ENSP00000366650.3:n.244-109A>G | |
| NM_001164716.1:c.244-109A>G | NP_001158188.1:n.244-109A>G | |
| NM_005609.2:c.425-26A>G | NP_005600.1:n.425-26A>G | |
| NM_005609.3:c.425-26A>G | NP_005600.1:n.425-26A>G | |
| NM_005609.4:c.425-26A>G MANE Select | NP_005600.1:n.425-26A>G |