Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11964787T= , CM000663.2:g.11964787T= | GRCh38 |
| NC_000001.10:g.12024844T= , CM000663.1:g.12024844T= | GRCh37 |
| NC_000001.9:g.11947431T= | NCBI36 |
| NG_008159.1:g.35099T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000302.4:c.1470+2T= MANE Select | NP_000293.2:n.1470+2T= |
| ENST00000196061.5:c.1470+2T= MANE Select | ENSP00000196061.4:n.1470+2T= |
| NM_000302.3:c.1470+2T= | NP_000293.2:n.1470+2T= |
| NM_001316320.1:c.1611+2T= | NP_001303249.1:n.1611+2T= |
| NM_001316320.2:c.1611+2T= | NP_001303249.1:n.1611+2T= |
| ENST00000196061.4:c.1470+2T= | ENSP00000196061.4:n.1470+2T= |
| ENST00000470133.1:n.84+2T= | |
| ENST00000491536.5:n.98+2T= | |
| XM_011541594.1:c.1551+2T= | XP_011539896.1:n.1551+2T= |
| XM_024447707.1:c.804+2T= | XP_024303475.1:n.804+2T= |