Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1564800T>C , CM000663.2:g.1564800T>C | GRCh38 |
| NC_000001.10:g.1500180T>C , CM000663.1:g.1500180T>C | GRCh37 |
| NC_000001.9:g.1490043T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291386.4:c.197A>G MANE Select | ENSP00000291386.3:p.Asn66Ser | |
| ENST00000291386.3:c.197A>G | ENSP00000291386.3:p.Asn66Ser | |
| ENST00000359060.5:c.197A>G | ENSP00000351955.3:p.Asn66Ser | |
| ENST00000378725.3:n.227A>G | ||
| NM_014188.2:c.197A>G | NP_054907.1:p.Asn66Ser | |
| NM_014188.3:c.197A>G MANE Select | NP_054907.1:p.Asn66Ser |