Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186539519G= , CM000665.2:g.186539519G= | GRCh38 |
| NC_000003.11:g.186257308G= , CM000665.1:g.186257308G= | GRCh37 |
| NC_000003.10:g.187740002G= | NCBI36 |
| NG_009829.1:g.9860C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307944.6:c.100C= MANE Select | ENSP00000312099.5:p.Leu34= | |
| ENST00000307944.5:c.100C= | ENSP00000312099.5:p.Leu34= | |
| ENST00000392499.6:c.100C= | ENSP00000376287.2:p.Leu34= | |
| ENST00000460288.1:n.1002C= | ||
| NM_017541.2:c.100C= | NP_060011.1:p.Leu34= | |
| NM_017541.3:c.100C= | NP_060011.1:p.Leu34= | |
| NM_017541.4:c.100C= MANE Select | NP_060011.1:p.Leu34= |