Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400840C>A , CM000670.2:g.18400840C>A | GRCh38 |
| NC_000008.10:g.18258350C>A , CM000670.1:g.18258350C>A | GRCh37 |
| NC_000008.9:g.18302630C>A | NCBI36 |
| NG_012246.1:g.14596C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286479.4:c.837C>A MANE Select | ENSP00000286479.3:p.Leu279= | |
| ENST00000286479.3:c.837C>A | ENSP00000286479.3:p.Leu279= | |
| ENST00000520116.1:c.447C>A | ENSP00000428416.1:p.Leu149= | |
| NM_000015.2:c.837C>A | NP_000006.2:p.Leu279= | |
| XM_011544358.1:c.837C>A | XP_011542660.1:p.Leu279= | |
| XM_017012938.1:c.837C>A | XP_016868427.1:p.Leu279= | |
| NM_000015.3:c.837C>A MANE Select | NP_000006.2:p.Leu279= |