Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2842268T= , CM000686.2:g.2842268T= | GRCh38 |
| NC_000024.9:g.2710309T= , CM000686.1:g.2710309T= | GRCh37 |
| NC_000024.8:g.2770309T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679518.1:n.326+26T= | ||
| ENST00000681787.1:n.382+26T= | ||
| ENST00000681940.1:n.107-3378T= | ||
| ENST00000250784.13:c.81+26T= MANE Select | ENSP00000250784.7:n.81+26T= | |
| ENST00000250784.12:c.81+26T= | ENSP00000250784.7:n.81+26T= | |
| ENST00000430575.1:c.108+26T= | ENSP00000415317.1:n.108+26T= | |
| NM_001008.3:c.81+26T= | NP_000999.1:n.81+26T= | |
| NM_001008.4:c.81+26T= MANE Select | NP_000999.1:n.81+26T= |