Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39247900C>T , CM000681.2:g.39247900C>T | GRCh38 |
| NC_000019.9:g.39738540C>T , CM000681.1:g.39738540C>T | GRCh37 |
| NC_000019.8:g.44430380C>T | NCBI36 |
| NG_042193.1:g.2072G>A | |
| NG_055295.1:g.5957G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000606380.2:c.223+24G>A | ENSP00000476098.1:n.223+24G>A | |
| ENST00000610963.1:c.222+24G>A | ENSP00000481371.1:n.222+24G>A | |
| ENST00000616270.4:c.223+24G>A | ENSP00000480679.1:n.223+24G>A | |
| ENST00000634680.1:c.152-437G>A | ENSP00000489240.1:n.152-437G>A | |
| ENST00000634967.1:c.223+24G>A | ENSP00000489559.1:n.223+24G>A | |
| NR_074079.1:n.500+24G>A |