Canonical Allele Identifier:
CA590176111
Gene:
Linked Data
dbSNP Id:
rs1230852367
gnomAD v2:
9-120559050-C-G
gnomAD v3:
9-117796772-C-G
gnomAD v4:
9-117796772-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.117796772C>G , CM000671.2:g.117796772C>G | GRCh38 |
| NC_000009.11:g.120559050C>G , CM000671.1:g.120559050C>G | GRCh37 |
| NC_000009.10:g.119598871C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646089.2:c.94-51293C>G | ENSP00000496197.1:n.94-51293C>G | |
| ENST00000697624.1:n.201-51293C>G | ||
| ENST00000697636.1:c.94-51293C>G | ENSP00000513366.1:n.94-51293C>G | |
| ENST00000697637.1:c.94-51293C>G | ENSP00000513367.1:n.94-51293C>G | |
| ENST00000697664.1:c.*86+29522C>G | ENSP00000513389.1:n.*86+29522C>G | |
| ENST00000697665.1:c.94-51293C>G | ENSP00000513390.1:n.94-51293C>G | |
| ENST00000697666.1:c.141-51293C>G | ENSP00000513391.1:n.141-51293C>G | |
| ENST00000642985.1:c.261-51293C>G | ENSP00000493686.1:n.261-51293C>G | |
| ENST00000646089.1:c.94-51293C>G | ENSP00000496197.1:n.94-51293C>G | |
| ENST00000665764.1:c.94-51293C>G | ENSP00000499745.1:n.94-51293C>G | |
| XR_930289.1:n.1628-6209C>G | ||
| XR_001746915.1:n.2244-6209C>G |