Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38075160G= , CM000664.2:g.38075160G= | GRCh38 |
| NC_000002.11:g.38302303G= , CM000664.1:g.38302303G= | GRCh37 |
| NC_000002.10:g.38155807G= | NCBI36 |
| NG_008386.2:g.5942C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000490576.2:c.229C= | ENSP00000478839.2:p.Leu77= | |
| ENST00000610745.5:c.229C= MANE Select | ENSP00000478561.1:p.Leu77= | |
| ENST00000490576.1:c.229C= | ENSP00000478839.1:p.Leu77= | |
| ENST00000494864.1:c.-70-3850C= | ENSP00000479876.1:n.-70-3850C= | |
| ENST00000610745.4:c.229C= | ENSP00000478561.1:p.Leu77= | |
| ENST00000613082.1:n.375+620C= | ||
| ENST00000614273.1:c.229C= | ENSP00000483678.1:p.Leu77= | |
| NM_000104.3:c.229C= | NP_000095.2:p.Leu77= | |
| NM_000104.4:c.229C= MANE Select | NP_000095.2:p.Leu77= |