Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128300920G= , CM000667.2:g.128300920G= | GRCh38 |
| NC_000005.9:g.127636612G= , CM000667.1:g.127636612G= | GRCh37 |
| NC_000005.8:g.127664511G= | NCBI36 |
| NG_008750.1:g.242124C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.2847C= | ||
| ENST00000703785.1:n.2766C= | ||
| ENST00000262464.9:c.6063C= MANE Select | ENSP00000262464.4:p.Val2021= | |
| ENST00000262464.8:c.6063C= | ENSP00000262464.4:p.Val2021= | |
| ENST00000508053.5:c.6063C= | ENSP00000424571.1:p.Val2021= | |
| ENST00000619499.4:c.6060C= | ENSP00000482132.1:p.Val2020= | |
| NM_001999.3:c.6063C= | NP_001990.2:p.Val2021= | |
| XM_017009228.2:c.5910C= | XP_016864717.1:p.Val1970= | |
| NM_001999.4:c.6063C= MANE Select | NP_001990.2:p.Val2021= |