Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39248234C>T , CM000681.2:g.39248234C>T | GRCh38 |
| NC_000019.9:g.39738874C>T , CM000681.1:g.39738874C>T | GRCh37 |
| NC_000019.8:g.44430714C>T | NCBI36 |
| NG_042193.1:g.1738G>A | |
| NG_055295.1:g.5623G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000606380.2:c.151+195G>A | ENSP00000476098.1:n.151+195G>A | |
| ENST00000610963.1:c.150+195G>A | ENSP00000481371.1:n.150+195G>A | |
| ENST00000616270.4:c.151+195G>A | ENSP00000480679.1:n.151+195G>A | |
| ENST00000634680.1:c.151+195G>A | ENSP00000489240.1:n.151+195G>A | |
| ENST00000634967.1:c.151+195G>A | ENSP00000489559.1:n.151+195G>A | |
| NR_074079.1:n.428+195G>A |