Canonical Allele Identifier:
CA199183221
Community Standard Title: NC_000009.12:g.118033712T>C
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.118033712T>C , CM000671.2:g.118033712T>C | GRCh38 |
| NC_000009.11:g.120795990T>C , CM000671.1:g.120795990T>C | GRCh37 |
| NC_000009.10:g.119835811T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000665764.1:c.*110-23318T>C | ENSP00000499745.1:n.*110-23318T>C |
| ENST00000697636.1:c.*17-23318T>C | ENSP00000513366.1:n.*17-23318T>C |