Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128317330A= , CM000667.2:g.128317330A= | GRCh38 |
| NC_000005.9:g.127653022A= , CM000667.1:g.127653022A= | GRCh37 |
| NC_000005.8:g.127680921A= | NCBI36 |
| NG_008750.1:g.225714T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.4717+819T= MANE Select | NP_001990.2:n.4717+819T= |
| ENST00000262464.9:c.4717+819T= MANE Select | ENSP00000262464.4:n.4717+819T= |
| NM_001999.3:c.4717+819T= | NP_001990.2:n.4717+819T= |
| ENST00000262464.8:c.4717+819T= | ENSP00000262464.4:n.4717+819T= |
| ENST00000508053.5:c.4717+819T= | ENSP00000424571.1:n.4717+819T= |
| ENST00000619499.4:c.4714+819T= | ENSP00000482132.1:n.4714+819T= |
| ENST00000703783.1:n.1501+819T= | |
| ENST00000703785.1:n.1582+819T= | |
| XM_017009228.2:c.4564+819T= | XP_016864717.1:n.4564+819T= |