Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713227T>C , CM000681.2:g.6713227T>C | GRCh38 |
| NC_000019.9:g.6713238T>C , CM000681.1:g.6713238T>C | GRCh37 |
| NC_000019.8:g.6664238T>C | NCBI36 |
| NG_009557.1:g.12425A>G , LRG_27:g.12425A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000064.4:c.965A>G MANE Select | NP_000055.2:p.Lys322Arg |
| ENST00000245907.11:c.965A>G MANE Select | ENSP00000245907.4:p.Lys322Arg |
| NM_000064.3:c.965A>G | NP_000055.2:p.Lys322Arg |
| ENST00000245907.10:c.965A>G | ENSP00000245907.4:p.Lys322Arg |
| ENST00000594270.5:n.89A>G | |
| ENST00000595577.1:n.469A>G | |
| ENST00000597442.5:n.215A>G | |
| ENST00000695652.1:c.842A>G | ENSP00000512083.1:p.Lys281Arg |
| ENST00000695654.1:c.89A>G | ENSP00000512085.1:p.Lys30Arg |
| ENST00000695692.1:n.289A>G |