Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128290744T>C , CM000667.2:g.128290744T>C | GRCh38 |
| NC_000005.9:g.127626436T>C , CM000667.1:g.127626436T>C | GRCh37 |
| NC_000005.8:g.127654335T>C | NCBI36 |
| NG_008750.1:g.252300A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.6433A>G MANE Select | NP_001990.2:p.Lys2145Glu |
| ENST00000262464.9:c.6433A>G MANE Select | ENSP00000262464.4:p.Lys2145Glu |
| NM_001999.3:c.6433A>G | NP_001990.2:p.Lys2145Glu |
| ENST00000262464.8:c.6433A>G | ENSP00000262464.4:p.Lys2145Glu |
| ENST00000508053.5:c.6433A>G | ENSP00000424571.1:p.Lys2145Glu |
| ENST00000619499.4:c.6430A>G | ENSP00000482132.1:p.Lys2144Glu |
| ENST00000703783.1:n.3217A>G | |
| ENST00000703785.1:n.3136A>G | |
| XM_017009228.2:c.6280A>G | XP_016864717.1:p.Lys2094Glu |