Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47836381A>C , CM000681.2:g.47836381A>C | GRCh38 |
| NC_000019.9:g.48339638A>C , CM000681.1:g.48339638A>C | GRCh37 |
| NC_000019.8:g.53031450A>C | NCBI36 |
| NG_008605.1:g.19540A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221996.12:c.239A>C MANE Select | ENSP00000221996.5:p.Glu80Ala | |
| ENST00000221996.11:c.239A>C | ENSP00000221996.5:p.Glu80Ala | |
| ENST00000539067.5:c.239A>C | ENSP00000445565.1:p.Glu80Ala | |
| ENST00000613299.1:c.100+1838A>C | ENSP00000478106.1:n.100+1838A>C | |
| NM_000554.4:c.239A>C | NP_000545.1:p.Glu80Ala | |
| NM_000554.5:c.239A>C | NP_000545.1:p.Glu80Ala | |
| NM_000554.6:c.239A>C MANE Select | NP_000545.1:p.Glu80Ala |