Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38071184G= , CM000664.2:g.38071184G= | GRCh38 |
| NC_000002.11:g.38298327G= , CM000664.1:g.38298327G= | GRCh37 |
| NC_000002.10:g.38151831G= | NCBI36 |
| NG_008386.2:g.9918C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000490576.2:c.1170C= | ENSP00000478839.2:p.Arg390= | |
| ENST00000610745.5:c.1170C= MANE Select | ENSP00000478561.1:p.Arg390= | |
| ENST00000492443.1:n.548C= | ||
| ENST00000494864.1:c.57C= | ENSP00000479876.1:p.Arg19= | |
| ENST00000610745.4:c.1170C= | ENSP00000478561.1:p.Arg390= | |
| ENST00000613082.1:n.565C= | ||
| ENST00000614273.1:c.1170C= | ENSP00000483678.1:p.Arg390= | |
| NM_000104.3:c.1170C= | NP_000095.2:p.Arg390= | |
| NM_000104.4:c.1170C= MANE Select | NP_000095.2:p.Arg390= |