Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33850969A= , CM000682.2:g.33850969A= | GRCh38 |
| NC_000020.10:g.32438775A= , CM000682.1:g.32438775A= | GRCh37 |
| NC_000020.9:g.31902436A= | NCBI36 |
| NG_015820.1:g.44666A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000217402.3:c.386A= MANE Select | ENSP00000217402.2:p.Asp129= | |
| ENST00000217402.2:c.386A= | ENSP00000217402.2:p.Asp129= | |
| NM_176812.4:c.386A= | NP_789782.1:p.Asp129= | |
| NM_176812.5:c.386A= MANE Select | NP_789782.1:p.Asp129= |