Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.191375297C>G , CM000665.2:g.191375297C>G | GRCh38 |
| NC_000003.11:g.191093086C>G , CM000665.1:g.191093086C>G | GRCh37 |
| NC_000003.10:g.192575780C>G | NCBI36 |
| NG_008994.1:g.51213C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392455.9:c.684C>G MANE Select | ENSP00000376249.4:p.Ser228= | |
| ENST00000392456.4:c.449-4862C>G | ENSP00000376250.4:n.449-4862C>G | |
| ENST00000392455.7:c.449-4862C>G | ENSP00000376249.3:n.449-4862C>G | |
| ENST00000392456.3:c.684C>G | ENSP00000376250.3:p.Ser228= | |
| NM_174908.3:c.449-4862C>G | NP_777568.1:n.449-4862C>G | |
| NM_178335.2:c.684C>G | NP_848018.1:p.Ser228= | |
| XM_011512460.1:c.684C>G | XP_011510762.1:p.Ser228= | |
| NM_178335.3:c.684C>G MANE Select | NP_848018.1:p.Ser228= | |
| NM_174908.4:c.449-4862C>G | NP_777568.1:n.449-4862C>G |