Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39248107G>T , CM000681.2:g.39248107G>T | GRCh38 |
| NC_000019.9:g.39738747G>T , CM000681.1:g.39738747G>T | GRCh37 |
| NC_000019.8:g.44430587G>T | NCBI36 |
| NG_042193.1:g.1865C>A | |
| NG_055295.1:g.5750C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000606380.2:c.152-112C>A | ENSP00000476098.1:n.152-112C>A | |
| ENST00000610963.1:c.151-112C>A | ENSP00000481371.1:n.151-112C>A | |
| ENST00000616270.4:c.152-112C>A | ENSP00000480679.1:n.152-112C>A | |
| ENST00000634680.1:c.151+322C>A | ENSP00000489240.1:n.151+322C>A | |
| ENST00000634967.1:c.152-112C>A | ENSP00000489559.1:n.152-112C>A | |
| NR_074079.1:n.429-112C>A |