Linked Data
ClinVar Variation Id:
1275250
ClinVar RCV Id:
RCV001679489
dbSNP Id:
rs17853500
ExAC:
12:91502250 A / G
gnomAD v2:
12-91502250-A-G
gnomAD v3:
12-91108473-A-G
gnomAD v4:
12-91108473-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91108473A>G , CM000674.2:g.91108473A>G | GRCh38 |
| NC_000012.11:g.91502250A>G , CM000674.1:g.91502250A>G | GRCh37 |
| NC_000012.10:g.90026381A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000266718.5:c.507T>C MANE Select | ENSP00000266718.4:p.Asn169= | |
| ENST00000266718.4:c.507T>C | ENSP00000266718.4:p.Asn169= | |
| ENST00000546642.1:n.257T>C | ||
| ENST00000548071.1:n.90-190T>C | ||
| NM_002345.3:c.507T>C | NP_002336.1:p.Asn169= | |
| NM_002345.4:c.507T>C MANE Select | NP_002336.1:p.Asn169= |