Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128288559T= , CM000667.2:g.128288559T= | GRCh38 |
| NC_000005.9:g.127624251T= , CM000667.1:g.127624251T= | GRCh37 |
| NC_000005.8:g.127652150T= | NCBI36 |
| NG_008750.1:g.254485A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.6638-2A= MANE Select | NP_001990.2:n.6638-2A= |
| ENST00000262464.9:c.6638-2A= MANE Select | ENSP00000262464.4:n.6638-2A= |
| NM_001999.3:c.6638-2A= | NP_001990.2:n.6638-2A= |
| ENST00000262464.8:c.6638-2A= | ENSP00000262464.4:n.6638-2A= |
| ENST00000508053.5:c.6638-2A= | ENSP00000424571.1:n.6638-2A= |
| ENST00000619499.4:c.6635-2A= | ENSP00000482132.1:n.6635-2A= |
| ENST00000703783.1:n.3422-2A= | |
| ENST00000703785.1:n.3341-2A= | |
| XM_017009228.2:c.6485-2A= | XP_016864717.1:n.6485-2A= |