Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149570099C>G , CM000664.2:g.149570099C>G | GRCh38 |
| NC_000002.11:g.150426613C>G , CM000664.1:g.150426613C>G | GRCh37 |
| NC_000002.10:g.150134859C>G | NCBI36 |
| NG_009189.1:g.22718G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303319.10:c.766G>C MANE Select | ENSP00000301920.5:p.Val256Leu | |
| ENST00000303319.9:c.766G>C | ENSP00000301920.5:p.Val256Leu | |
| ENST00000422782.2:c.868G>C | ENSP00000408331.2:p.Val290Leu | |
| ENST00000428879.5:c.766G>C | ENSP00000389060.1:p.Val256Leu | |
| NM_015702.2:c.766G>C | NP_056517.1:p.Val256Leu | |
| NM_015702.3:c.766G>C MANE Select | NP_056517.1:p.Val256Leu |