Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149978231C>G , CM000667.2:g.149978231C>G | GRCh38 |
| NC_000005.9:g.149357794C>G , CM000667.1:g.149357794C>G | GRCh37 |
| NC_000005.8:g.149337987C>G | NCBI36 |
| NG_007147.2:g.19349C>G , LRG_684:g.19349C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.811C>G | ||
| ENST00000286298.5:c.579C>G MANE Select | ENSP00000286298.4:p.Ser193= | |
| ENST00000286298.4:c.579C>G | ENSP00000286298.4:p.Ser193= | |
| ENST00000503336.1:c.252C>G | ENSP00000426053.1:p.Ser84= | |
| NM_000112.3:c.579C>G , LRG_684t1:c.579C>G | NP_000103.2:p.Ser193= | |
| XM_017009191.2:c.579C>G | XP_016864680.1:p.Ser193= | |
| NM_000112.4:c.579C>G MANE Select | NP_000103.2:p.Ser193= |