Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102835290G= , CM000672.2:g.102835290G= | GRCh38 |
| NC_000010.10:g.104595047G= , CM000672.1:g.104595047G= | GRCh37 |
| NC_000010.9:g.104585037G= | NCBI36 |
| NG_007955.1:g.7244C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000102.4:c.400C= MANE Select | NP_000093.1:p.Leu134= |
| ENST00000369887.4:c.400C= MANE Select | ENSP00000358903.3:p.Leu134= |
| NM_000102.3:c.400C= | NP_000093.1:p.Leu134= |
| ENST00000369887.3:c.400C= | ENSP00000358903.3:p.Leu134= |
| ENST00000489268.1:n.654C= | |
| ENST00000638190.1:c.400C= | ENSP00000492539.1:p.Leu134= |
| ENST00000638272.1:c.297+1775C= | ENSP00000491508.1:n.297+1775C= |
| ENST00000638971.1:c.400C= | ENSP00000492313.1:p.Leu134= |
| ENST00000639393.1:c.400C= | ENSP00000492651.1:p.Leu134= |
| ENST00000640633.1:n.162C= |