Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51200506A>T , CM000680.2:g.51200506A>T | GRCh38 |
| NC_000018.9:g.48726876A>T , CM000680.1:g.48726876A>T | GRCh37 |
| NC_000018.8:g.46980874A>T | NCBI36 |
| NG_015801.1:g.2176T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000591040.1:n.43+17756T>A | |
| ENST00000591040.2:c.-108+17756T>A | ENSP00000502049.1:n.-108+17756T>A |