Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10644828A= , CM000682.2:g.10644828A= | GRCh38 |
| NC_000020.10:g.10625476A= , CM000682.1:g.10625476A= | GRCh37 |
| NC_000020.9:g.10573476A= | NCBI36 |
| NG_007496.1:g.34219T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.2344+35T= MANE Select | ENSP00000254958.4:n.2344+35T= | |
| ENST00000617965.2:n.2933+35T= | ||
| ENST00000254958.9:c.2344+35T= | ENSP00000254958.4:n.2344+35T= | |
| ENST00000423891.6:n.2210+35T= | ||
| ENST00000488480.2:n.776T= | ||
| NM_000214.2:c.2344+35T= | NP_000205.1:n.2344+35T= | |
| NM_000214.3:c.2344+35T= MANE Select | NP_000205.1:n.2344+35T= |