Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.22151884T>C , CM000670.2:g.22151884T>C | GRCh38 |
| NC_000008.10:g.22009397T>C , CM000670.1:g.22009397T>C | GRCh37 |
| NC_000008.9:g.22065342T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_139278.4:c.611A>G MANE Select | NP_644807.1:p.Gln204Arg |
| ENST00000306317.7:c.611A>G MANE Select | ENSP00000302297.2:p.Gln204Arg |
| NM_139278.2:c.611A>G | NP_644807.1:p.Gln204Arg |
| NM_139278.3:c.611A>G | NP_644807.1:p.Gln204Arg |
| ENST00000306317.6:c.611A>G | ENSP00000302297.2:p.Gln204Arg |
| ENST00000424267.6:c.539A>G | ENSP00000399121.2:p.Gln180Arg |
| ENST00000517694.1:c.425A>G | ENSP00000427817.2:p.Gln142Arg |
| ENST00000520124.5:n.2054A>G |