Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35437541C>T , CM000682.2:g.35437541C>T | GRCh38 |
| NC_000020.10:g.34025321C>T , CM000682.1:g.34025321C>T | GRCh37 |
| NC_000020.9:g.33488735C>T | NCBI36 |
| NG_008076.2:g.5679G>A | |
| NG_008076.3:g.22206G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374369.8:c.388G>A MANE Select | ENSP00000363489.3:p.Gly130Arg | |
| ENST00000374369.7:c.388G>A | ENSP00000363489.3:p.Gly130Arg | |
| ENST00000374372.1:c.388G>A | ENSP00000363492.1:p.Gly130Arg | |
| NM_000557.4:c.388G>A | NP_000548.2:p.Gly130Arg | |
| XM_011529075.1:c.388G>A | XP_011527377.1:p.Gly130Arg | |
| XM_011529076.1:c.388G>A | XP_011527378.1:p.Gly130Arg | |
| NM_001319138.1:c.388G>A | NP_001306067.1:p.Gly130Arg | |
| NM_000557.5:c.388G>A MANE Select | NP_000548.2:p.Gly130Arg | |
| NM_001319138.2:c.388G>A | NP_001306067.1:p.Gly130Arg |