Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134475285A>T , CM000685.2:g.134475285A>T | GRCh38 |
| NC_000023.10:g.133609315A>T , CM000685.1:g.133609315A>T | GRCh37 |
| NC_000023.9:g.133436981A>T | NCBI36 |
| NG_012329.1:g.20141A>T | |
| NG_012329.2:g.20141A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298556.8:c.239A>T MANE Select | ENSP00000298556.7:p.Asp80Val | |
| ENST00000298556.7:c.239A>T | ENSP00000298556.7:p.Asp80Val | |
| ENST00000462974.5:n.397A>T | ||
| ENST00000475720.1:n.197A>T | ||
| NM_000194.2:c.239A>T | NP_000185.1:p.Asp80Val | |
| XM_011531328.1:c.257A>T | XP_011529630.1:p.Asp86Val | |
| NM_000194.3:c.239A>T MANE Select | NP_000185.1:p.Asp80Val |