Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.5314233G= , CM000682.2:g.5314233G= | GRCh38 |
| NC_000020.10:g.5294879G= , CM000682.1:g.5294879G= | GRCh37 |
| NC_000020.9:g.5242879G= | NCBI36 |
| NG_008132.1:g.5137C= | |
| NG_008132.2:g.5137C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217270.4:c.137C= | ENSP00000217270.3:p.Thr46= | |
| ENST00000678059.1:c.29C= | ENSP00000503366.1:p.Thr10= | |
| ENST00000678254.1:c.137C= MANE Select | ENSP00000504128.1:p.Thr46= | |
| ENST00000217270.3:c.137C= | ENSP00000217270.3:p.Thr46= | |
| NM_144773.2:c.137C= | NP_658986.1:p.Thr46= | |
| XM_005260663.2:c.137C= | XP_005260720.1:p.Thr46= | |
| XM_011529159.1:c.29C= | XP_011527461.1:p.Thr10= | |
| NM_144773.3:c.137C= | NP_658986.1:p.Thr46= | |
| XM_017027646.1:c.137C= | XP_016883135.1:p.Thr46= | |
| NM_144773.4:c.137C= MANE Select | NP_658986.1:p.Thr46= |