Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130380560G>C , CM000669.2:g.130380560G>C | GRCh38 |
| NC_000007.13:g.130020401G>C , CM000669.1:g.130020401G>C | GRCh37 |
| NC_000007.12:g.129807637G>C | NCBI36 |
| NG_042276.1:g.5190G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001868.4:c.40G>C MANE Select | NP_001859.1:p.Val14Leu |
| ENST00000011292.8:c.40G>C MANE Select | ENSP00000011292.3:p.Val14Leu |
| NM_001868.3:c.40G>C | NP_001859.1:p.Val14Leu |
| ENST00000011292.7:c.40G>C | ENSP00000011292.3:p.Val14Leu |
| ENST00000481342.5:c.-200+151G>C | ENSP00000420218.1:n.-200+151G>C |
| ENST00000491460.5:n.67G>C | |
| ENST00000604896.5:c.67G>C | ENSP00000475021.1:p.Val23Leu |