Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39503058G>T , CM000681.2:g.39503058G>T | GRCh38 |
| NC_000019.9:g.39993698G>T , CM000681.1:g.39993698G>T | GRCh37 |
| NC_000019.8:g.44685538G>T | NCBI36 |
| NG_008256.1:g.9142G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_203486.3:c.652+1G>T MANE Select | NP_982353.1:n.652+1G>T |
| ENST00000356433.10:c.652+1G>T MANE Select | ENSP00000348810.4:n.652+1G>T |
| NM_016941.3:c.652+1G>T | NP_058637.1:n.652+1G>T |
| NM_016941.4:c.652+1G>T | NP_058637.1:n.652+1G>T |
| NM_203486.2:c.652+1G>T | NP_982353.1:n.652+1G>T |
| ENST00000205143.4:c.652+1G>T | ENSP00000205143.3:n.652+1G>T |
| ENST00000356433.9:c.652+1G>T | ENSP00000348810.4:n.652+1G>T |
| ENST00000596614.5:c.409+2386G>T | ENSP00000471688.1:n.409+2386G>T |
| ENST00000600437.1:n.732+1G>T |