Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6077263G>A , CM000682.2:g.6077263G>A | GRCh38 |
| NC_000020.10:g.6057910G>A , CM000682.1:g.6057910G>A | GRCh37 |
| NC_000020.9:g.6005910G>A | NCBI36 |
| NG_016213.1:g.51282C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017671.5:c.1944C>T MANE Select | NP_060141.3:p.Gly648= |
| ENST00000217289.9:c.1944C>T MANE Select | ENSP00000217289.4:p.Gly648= |
| NM_017671.4:c.1944C>T | NP_060141.3:p.Gly648= |
| ENST00000217289.8:c.1944C>T | ENSP00000217289.4:p.Gly648= |
| ENST00000478194.1:n.904C>T | |
| ENST00000536936.1:c.1173C>T | ENSP00000441063.1:p.Gly391= |
| ENST00000699095.1:c.1944C>T | ENSP00000514127.1:p.Gly648= |
| XM_024451935.1:c.1944C>T | XP_024307703.1:p.Gly648= |