Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.31820130G= , CM000682.2:g.31820130G= | GRCh38 |
| NC_000020.10:g.30407933G= , CM000682.1:g.30407933G= | GRCh37 |
| NC_000020.9:g.29871594G= | NCBI36 |
| NG_012847.1:g.5756G= , LRG_392:g.5756G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375985.5:c.57G= MANE Select | ENSP00000365152.4:p.Lys19= | |
| ENST00000375985.4:c.57G= | ENSP00000365152.4:p.Lys19= | |
| ENST00000375994.6:c.57G= | ENSP00000365162.2:p.Lys19= | |
| NM_033118.3:c.57G= , LRG_392t1:c.57G= | NP_149109.1:p.Lys19= | |
| XR_244155.1:n.222G= | ||
| NM_033118.4:c.57G= MANE Select | NP_149109.1:p.Lys19= |