Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869475T= , CM000664.2:g.240869475T= | GRCh38 |
| NC_000002.11:g.241808892T= , CM000664.1:g.241808892T= | GRCh37 |
| NC_000002.10:g.241457565T= | NCBI36 |
| NG_008005.1:g.5731T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.358+113T= MANE Select | ENSP00000302620.3:n.358+113T= | |
| ENST00000307503.3:c.358+113T= | ENSP00000302620.3:n.358+113T= | |
| ENST00000472436.1:n.378+113T= | ||
| NM_000030.2:c.358+113T= | NP_000021.1:n.358+113T= | |
| XR_924060.1:n.405+758A= | ||
| NM_000030.3:c.358+113T= MANE Select | NP_000021.1:n.358+113T= |