Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24145658G>A , CM000668.2:g.24145658G>A | GRCh38 |
| NC_000006.11:g.24145886G>A , CM000668.1:g.24145886G>A | GRCh37 |
| NC_000006.10:g.24253865G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378491.9:c.300G>A MANE Select | ENSP00000367752.4:p.Val100= | |
| ENST00000378477.2:c.300G>A | ENSP00000367738.2:p.Val100= | |
| ENST00000378478.5:c.300G>A | ENSP00000367739.2:p.Val100= | |
| ENST00000378491.8:c.300G>A | ENSP00000367752.4:p.Val100= | |
| ENST00000468195.2:n.257-9113G>A | ||
| NM_080723.4:c.300G>A | NP_542454.3:p.Val100= | |
| NM_080723.5:c.300G>A MANE Select | NP_542454.3:p.Val100= |