Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6181961A= , CM000668.2:g.6181961A= | GRCh38 |
| NC_000006.11:g.6182194A= , CM000668.1:g.6182194A= | GRCh37 |
| NC_000006.10:g.6127193A= | NCBI36 |
| NG_008107.1:g.143731T= , LRG_549:g.143731T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264870.8:c.1459+27T= MANE Select | ENSP00000264870.3:n.1459+27T= | |
| ENST00000264870.7:c.1459+27T= | ENSP00000264870.3:n.1459+27T= | |
| NM_000129.3:c.1459+27T= , LRG_549t1:c.1459+27T= | NP_000120.2:n.1459+27T= | |
| XM_006715010.2:c.1459+27T= | XP_006715073.1:n.1459+27T= | |
| XM_011514342.1:c.1621+27T= | XP_011512644.1:n.1621+27T= | |
| NM_000129.4:c.1459+27T= MANE Select | NP_000120.2:n.1459+27T= |