Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6707877T>C , CM000681.2:g.6707877T>C | GRCh38 |
| NC_000019.9:g.6707888T>C , CM000681.1:g.6707888T>C | GRCh37 |
| NC_000019.8:g.6658888T>C | NCBI36 |
| NG_009557.1:g.17775A>G , LRG_27:g.17775A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000064.4:c.1898A>G MANE Select | NP_000055.2:p.Lys633Arg |
| ENST00000245907.11:c.1898A>G MANE Select | ENSP00000245907.4:p.Lys633Arg |
| NM_000064.3:c.1898A>G | NP_000055.2:p.Lys633Arg |
| ENST00000245907.10:c.1898A>G | ENSP00000245907.4:p.Lys633Arg |
| ENST00000695651.1:n.169A>G | |
| ENST00000695652.1:c.1775A>G | ENSP00000512083.1:p.Lys592Arg |
| ENST00000695654.1:c.1022A>G | ENSP00000512085.1:p.Lys341Arg |
| ENST00000695655.1:c.839A>G | ENSP00000512086.1:n.839A>G |
| ENST00000695692.1:n.1262A>G |