Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.59024044C= , CM000682.2:g.59024044C= | GRCh38 |
| NC_000020.10:g.57599099C= , CM000682.1:g.57599099C= | GRCh37 |
| NC_000020.9:g.57032494C= | NCBI36 |
| NG_023424.2:g.9791C= , LRG_581:g.9791C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217133.2:c.617C= MANE Select | ENSP00000217133.1:p.Ala206= | |
| ENST00000217133.1:c.617C= | ENSP00000217133.1:p.Ala206= | |
| NM_030773.3:c.617C= , LRG_581t1:c.617C= | NP_110400.1:p.Ala206= | |
| XM_017028085.1:c.551C= | XP_016883574.1:p.Ala184= | |
| NM_030773.4:c.617C= MANE Select | NP_110400.1:p.Ala206= |