Canonical Allele Identifier:
CA198781069
Gene:
Linked Data
dbSNP Id:
rs757556034
gnomAD v2:
9-120559031-C-T
gnomAD v3:
9-117796753-C-T
gnomAD v4:
9-117796753-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.117796753C>T , CM000671.2:g.117796753C>T | GRCh38 |
| NC_000009.11:g.120559031C>T , CM000671.1:g.120559031C>T | GRCh37 |
| NC_000009.10:g.119598852C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646089.2:c.94-51312C>T | ENSP00000496197.1:n.94-51312C>T | |
| ENST00000697624.1:n.201-51312C>T | ||
| ENST00000697636.1:c.94-51312C>T | ENSP00000513366.1:n.94-51312C>T | |
| ENST00000697637.1:c.94-51312C>T | ENSP00000513367.1:n.94-51312C>T | |
| ENST00000697664.1:c.*86+29503C>T | ENSP00000513389.1:n.*86+29503C>T | |
| ENST00000697665.1:c.94-51312C>T | ENSP00000513390.1:n.94-51312C>T | |
| ENST00000697666.1:c.141-51312C>T | ENSP00000513391.1:n.141-51312C>T | |
| ENST00000642985.1:c.261-51312C>T | ENSP00000493686.1:n.261-51312C>T | |
| ENST00000646089.1:c.94-51312C>T | ENSP00000496197.1:n.94-51312C>T | |
| ENST00000665764.1:c.94-51312C>T | ENSP00000499745.1:n.94-51312C>T | |
| XR_930289.1:n.1628-6228C>T | ||
| XR_001746915.1:n.2244-6228C>T |