Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67879319T>G , CM000678.2:g.67879319T>G | GRCh38 |
| NC_000016.9:g.67913222T>G , CM000678.1:g.67913222T>G | GRCh37 |
| NC_000016.8:g.66470723T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014329.5:c.1541+10T>G MANE Select | NP_055144.3:n.1541+10T>G |
| ENST00000358933.10:c.1541+10T>G MANE Select | ENSP00000351811.5:n.1541+10T>G |
| NM_014329.4:c.1541+10T>G | NP_055144.3:n.1541+10T>G |
| ENST00000358933.9:c.1541+10T>G | ENSP00000351811.5:n.1541+10T>G |
| ENST00000536072.6:n.1546+10T>G | |
| ENST00000572031.1:n.339+10T>G | |
| ENST00000572221.5:n.2255+10T>G | |
| ENST00000573992.5:n.920+10T>G | |
| ENST00000574770.5:n.1232+182T>G |