Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11571680T>A , CM000681.2:g.11571680T>A | GRCh38 |
| NC_000019.9:g.11682495T>A , CM000681.1:g.11682495T>A | GRCh37 |
| NC_000019.8:g.11543495T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000585493.5:c.-197-3570T>A | ENSP00000464997.1:n.-197-3570T>A |
| ENST00000588651.1:n.428-3570T>A | |
| ENST00000593279.5:n.416-3570T>A |