Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52029605A= , CM000666.2:g.52029605A= | GRCh38 |
| NC_000004.11:g.52895771A= , CM000666.1:g.52895771A= | GRCh37 |
| NC_000004.10:g.52590528A= | NCBI36 |
| NG_008891.1:g.13715T= , LRG_204:g.13715T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.429+73T= MANE Select | ENSP00000370839.6:n.429+73T= | |
| ENST00000381431.9:c.429+73T= | ENSP00000370839.5:n.429+73T= | |
| ENST00000506357.5:c.512+73T= | ||
| ENST00000514133.1:c.506+73T= | ENSP00000425818.1:n.506+73T= | |
| NM_000232.4:c.429+73T= , LRG_204t1:c.429+73T= | NP_000223.1:n.429+73T= | |
| XM_006714049.2:c.132+73T= | XP_006714112.1:n.132+73T= | |
| XM_011534403.1:c.219+73T= | XP_011532705.1:n.219+73T= | |
| XM_011534404.1:c.132+73T= | XP_011532706.1:n.132+73T= | |
| NM_000232.5:c.429+73T= MANE Select | NP_000223.1:n.429+73T= |