Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39247872T>G , CM000681.2:g.39247872T>G | GRCh38 |
| NC_000019.9:g.39738512T>G , CM000681.1:g.39738512T>G | GRCh37 |
| NC_000019.8:g.44430352T>G | NCBI36 |
| NG_042193.1:g.2100A>C | |
| NG_055295.1:g.5985A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000606380.2:c.224-21A>C | ENSP00000476098.1:n.224-21A>C | |
| ENST00000610963.1:c.223-21A>C | ENSP00000481371.1:n.223-21A>C | |
| ENST00000616270.4:c.223+52A>C | ENSP00000480679.1:n.223+52A>C | |
| ENST00000634680.1:c.152-409A>C | ENSP00000489240.1:n.152-409A>C | |
| ENST00000634967.1:c.223+52A>C | ENSP00000489559.1:n.223+52A>C | |
| NR_074079.1:n.501-21A>C |