Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.5314231G= , CM000682.2:g.5314231G= | GRCh38 |
| NC_000020.10:g.5294877G= , CM000682.1:g.5294877G= | GRCh37 |
| NC_000020.9:g.5242877G= | NCBI36 |
| NG_008132.1:g.5139C= | |
| NG_008132.2:g.5139C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217270.4:c.139C= | ENSP00000217270.3:p.Arg47= | |
| ENST00000678059.1:c.31C= | ENSP00000503366.1:p.Arg11= | |
| ENST00000678254.1:c.139C= MANE Select | ENSP00000504128.1:p.Arg47= | |
| ENST00000217270.3:c.139C= | ENSP00000217270.3:p.Arg47= | |
| NM_144773.2:c.139C= | NP_658986.1:p.Arg47= | |
| XM_005260663.2:c.139C= | XP_005260720.1:p.Arg47= | |
| XM_011529159.1:c.31C= | XP_011527461.1:p.Arg11= | |
| NM_144773.3:c.139C= | NP_658986.1:p.Arg47= | |
| XM_017027646.1:c.139C= | XP_016883135.1:p.Arg47= | |
| NM_144773.4:c.139C= MANE Select | NP_658986.1:p.Arg47= |