Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74749174C>G , CM000679.2:g.74749174C>G | GRCh38 |
| NC_000017.10:g.72745313C>G , CM000679.1:g.72745313C>G | GRCh37 |
| NC_000017.9:g.70256908C>G | NCBI36 |
| NG_013022.1:g.5551C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004252.5:c.328C>G MANE Select | NP_004243.1:p.Leu110Val |
| ENST00000262613.10:c.328C>G MANE Select | ENSP00000262613.5:p.Leu110Val |
| NM_004252.4:c.328C>G | NP_004243.1:p.Leu110Val |
| ENST00000262613.9:c.328C>G | ENSP00000262613.5:p.Leu110Val |
| ENST00000583369.5:c.328C>G | ENSP00000464321.1:p.Leu110Val |
| XR_002958087.1:n.547C>G |