Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51751943A>T , CM000681.2:g.51751943A>T | GRCh38 |
| NC_000019.9:g.52255196A>T , CM000681.1:g.52255196A>T | GRCh37 |
| NC_000019.8:g.56947008A>T | NCBI36 |
| NG_023426.1:g.4955T>A , LRG_146:g.4955T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000594900.2:c.-11-4938T>A | ENSP00000470750.2:n.-11-4938T>A | |
| ENST00000594900.1:c.-11-4938T>A | ENSP00000470750.1:n.-11-4938T>A |