Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714201T>C , CM000681.2:g.6714201T>C | GRCh38 |
| NC_000019.9:g.6714212T>C , CM000681.1:g.6714212T>C | GRCh37 |
| NC_000019.8:g.6665212T>C | NCBI36 |
| NG_009557.1:g.11451A>G , LRG_27:g.11451A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.524A>G | ENSP00000512083.1:p.Gln175Arg | |
| ENST00000245907.11:c.647A>G MANE Select | ENSP00000245907.4:p.Gln216Arg | |
| ENST00000245907.10:c.647A>G | ENSP00000245907.4:p.Gln216Arg | |
| ENST00000595577.1:n.151A>G | ||
| NM_000064.3:c.647A>G | NP_000055.2:p.Gln216Arg | |
| NM_000064.4:c.647A>G MANE Select | NP_000055.2:p.Gln216Arg |