Canonical Allele Identifier:
CA2594213546
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.24283830T>G , CM000669.2:g.24283830T>G | GRCh38 |
| NC_000007.13:g.24323449T>G , CM000669.1:g.24323449T>G | GRCh37 |
| NC_000007.12:g.24289974T>G | NCBI36 |
| NG_016148.1:g.4643T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_017012910.1:c.42-28131A>C | XP_016868399.1:n.42-28131A>C | |
| XM_017012911.1:c.42-28131A>C | XP_016868400.1:n.42-28131A>C | |
| XR_001745121.1:n.473+35527A>C | ||
| XR_001745122.1:n.345-86801A>C | ||
| XR_001745123.1:n.473+35527A>C | ||
| XR_001745124.1:n.473+35527A>C | ||
| XR_001745125.1:n.473+35527A>C | ||
| XR_001745126.1:n.473+35527A>C | ||
| XR_001745127.1:n.345-28131A>C | ||
| XR_001745129.1:n.473+35527A>C | ||
| XR_001745130.1:n.473+35527A>C | ||
| XR_001745131.1:n.473+35527A>C | ||
| XR_001745132.1:n.473+35527A>C |