Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149981243G= , CM000667.2:g.149981243G= | GRCh38 |
| NC_000005.9:g.149360806G= , CM000667.1:g.149360806G= | GRCh37 |
| NC_000005.8:g.149340999G= | NCBI36 |
| NG_007147.2:g.22361G= , LRG_684:g.22361G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000112.4:c.1650G= MANE Select | NP_000103.2:p.Lys550= |
| ENST00000286298.5:c.1650G= MANE Select | ENSP00000286298.4:p.Lys550= |
| NM_000112.3:c.1650G= , LRG_684t1:c.1650G= | NP_000103.2:p.Lys550= |
| ENST00000286298.4:c.1650G= | ENSP00000286298.4:p.Lys550= |
| ENST00000503336.1:c.372+2892G= | ENSP00000426053.1:n.372+2892G= |
| XM_017009191.2:c.1650G= | XP_016864680.1:p.Lys550= |