Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.62447517C= , CM000663.2:g.62447517C= | GRCh38 |
| NC_000001.10:g.62913188C= , CM000663.1:g.62913188C= | GRCh37 |
| NC_000001.9:g.62685776C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339950.5:c.1420+6C= MANE Select | ENSP00000343526.4:n.1420+6C= | |
| ENST00000339950.4:c.1420+6C= | ENSP00000343526.4:n.1420+6C= | |
| ENST00000371146.5:c.1420+6C= | ENSP00000360188.1:n.1420+6C= | |
| NM_001017415.1:c.1420+6C= | NP_001017415.1:n.1420+6C= | |
| NM_001017416.1:c.1420+6C= | NP_001017416.1:n.1420+6C= | |
| NM_003368.4:c.1420+6C= | NP_003359.3:n.1420+6C= | |
| NM_003368.5:c.1420+6C= MANE Select | NP_003359.3:n.1420+6C= | |
| NM_001017415.2:c.1420+6C= | NP_001017415.1:n.1420+6C= | |
| NM_001017416.2:c.1420+6C= | NP_001017416.1:n.1420+6C= |