Canonical Allele Identifier:
CA1875384202
Gene:
Linked Data
dbSNP Id:
rs1047654964
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.117796870A>T , CM000671.2:g.117796870A>T | GRCh38 |
| NC_000009.11:g.120559148A>T , CM000671.1:g.120559148A>T | GRCh37 |
| NC_000009.10:g.119598969A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646089.2:c.94-51195A>T | ENSP00000496197.1:n.94-51195A>T | |
| ENST00000697624.1:n.201-51195A>T | ||
| ENST00000697636.1:c.94-51195A>T | ENSP00000513366.1:n.94-51195A>T | |
| ENST00000697637.1:c.94-51195A>T | ENSP00000513367.1:n.94-51195A>T | |
| ENST00000697664.1:c.*86+29620A>T | ENSP00000513389.1:n.*86+29620A>T | |
| ENST00000697665.1:c.94-51195A>T | ENSP00000513390.1:n.94-51195A>T | |
| ENST00000697666.1:c.141-51195A>T | ENSP00000513391.1:n.141-51195A>T | |
| ENST00000642985.1:c.261-51195A>T | ENSP00000493686.1:n.261-51195A>T | |
| ENST00000646089.1:c.94-51195A>T | ENSP00000496197.1:n.94-51195A>T | |
| ENST00000665764.1:c.94-51195A>T | ENSP00000499745.1:n.94-51195A>T | |
| XR_930289.1:n.1628-6111A>T | ||
| XR_001746915.1:n.2244-6111A>T |