Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24145598G>C , CM000668.2:g.24145598G>C | GRCh38 |
| NC_000006.11:g.24145826G>C , CM000668.1:g.24145826G>C | GRCh37 |
| NC_000006.10:g.24253805G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378491.9:c.240G>C MANE Select | ENSP00000367752.4:p.Leu80= | |
| ENST00000378477.2:c.240G>C | ENSP00000367738.2:p.Leu80= | |
| ENST00000378478.5:c.240G>C | ENSP00000367739.2:p.Leu80= | |
| ENST00000378491.8:c.240G>C | ENSP00000367752.4:p.Leu80= | |
| ENST00000468195.2:n.257-9173G>C | ||
| NM_080723.4:c.240G>C | NP_542454.3:p.Leu80= | |
| NM_080723.5:c.240G>C MANE Select | NP_542454.3:p.Leu80= |