Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47834545T>G , CM000681.2:g.47834545T>G | GRCh38 |
| NC_000019.9:g.48337802T>G , CM000681.1:g.48337802T>G | GRCh37 |
| NC_000019.8:g.53029614T>G | NCBI36 |
| NG_008605.1:g.17704T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000554.6:c.100+2T>G MANE Select | NP_000545.1:n.100+2T>G |
| ENST00000221996.12:c.100+2T>G MANE Select | ENSP00000221996.5:n.100+2T>G |
| NM_000554.4:c.100+2T>G | NP_000545.1:n.100+2T>G |
| NM_000554.5:c.100+2T>G | NP_000545.1:n.100+2T>G |
| ENST00000221996.11:c.100+2T>G | ENSP00000221996.5:n.100+2T>G |
| ENST00000539067.5:c.100+2T>G | ENSP00000445565.1:n.100+2T>G |
| ENST00000556527.1:n.78-1698T>G | |
| ENST00000566686.5:c.100+2T>G | ENSP00000457808.2:n.100+2T>G |
| ENST00000613299.1:c.100+2T>G | ENSP00000478106.1:n.100+2T>G |