Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6107601T>C , CM000682.2:g.6107601T>C | GRCh38 |
| NC_000020.10:g.6088248T>C , CM000682.1:g.6088248T>C | GRCh37 |
| NC_000020.9:g.6036248T>C | NCBI36 |
| NG_016213.1:g.20944A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017671.5:c.780A>G MANE Select | NP_060141.3:p.Gln260= |
| ENST00000217289.9:c.780A>G MANE Select | ENSP00000217289.4:p.Gln260= |
| NM_017671.4:c.780A>G | NP_060141.3:p.Gln260= |
| ENST00000217289.8:c.780A>G | ENSP00000217289.4:p.Gln260= |
| ENST00000536936.1:c.9A>G | ENSP00000441063.1:p.Gln3= |
| ENST00000699095.1:c.780A>G | ENSP00000514127.1:p.Gln260= |
| ENST00000699096.1:n.1242A>G | |
| ENST00000699098.1:c.780A>G | ENSP00000514312.1:p.Gln260= |
| XM_024451935.1:c.780A>G | XP_024307703.1:p.Gln260= |