Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94989020C>G , CM000672.2:g.94989020C>G | GRCh38 |
| NC_000010.10:g.96748777C>G , CM000672.1:g.96748777C>G | GRCh37 |
| NC_000010.9:g.96738767C>G | NCBI36 |
| NG_008385.1:g.55363C>G | |
| NG_008385.2:g.55863C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000771.4:c.1465C>G MANE Select | NP_000762.2:p.Pro489Ala |
| ENST00000260682.8:c.1465C>G MANE Select | ENSP00000260682.6:p.Pro489Ala |
| NM_000771.3:c.1465C>G | NP_000762.2:p.Pro489Ala |
| ENST00000260682.6:c.1465C>G | ENSP00000260682.6:p.Pro489Ala |
| ENST00000643112.1:c.*474C>G | ENSP00000496202.1:n.*474C>G |