Linked Data
ClinVar Variation Id:
1935037
ClinVar RCV Id:
RCV002622915
dbSNP Id:
rs762682809
ExAC:
11:64525999 A / G
gnomAD v2:
11-64525999-A-G
gnomAD v3:
11-64758527-A-G
gnomAD v4:
11-64758527-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64758527A>G , CM000673.2:g.64758527A>G | GRCh38 |
| NC_000011.9:g.64525999A>G , CM000673.1:g.64525999A>G | GRCh37 |
| NC_000011.8:g.64282575A>G | NCBI36 |
| NG_013018.1:g.7189T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.346-12T>C MANE Select | ENSP00000164139.3:n.346-12T>C | |
| ENST00000164139.3:c.346-12T>C | ENSP00000164139.3:n.346-12T>C | |
| ENST00000377432.7:c.244-261T>C | ENSP00000366650.3:n.244-261T>C | |
| NM_001164716.1:c.244-261T>C | NP_001158188.1:n.244-261T>C | |
| NM_005609.2:c.346-12T>C | NP_005600.1:n.346-12T>C | |
| NM_005609.3:c.346-12T>C | NP_005600.1:n.346-12T>C | |
| NM_005609.4:c.346-12T>C MANE Select | NP_005600.1:n.346-12T>C |