Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151267439A>G , CM000667.2:g.151267439A>G | GRCh38 |
| NC_000005.9:g.150647000A>G , CM000667.1:g.150647000A>G | GRCh37 |
| NC_000005.8:g.150627193A>G | NCBI36 |
| NG_009059.1:g.19388A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357164.4:c.570A>G MANE Select | ENSP00000349687.3:p.Leu190= | |
| ENST00000357164.3:c.570A>G | ENSP00000349687.3:p.Leu190= | |
| NM_000405.4:c.570A>G | NP_000396.2:p.Leu190= | |
| NM_001167607.1:c.413-53A>G | NP_001161079.1:n.413-53A>G | |
| NM_000405.5:c.570A>G MANE Select | NP_000396.2:p.Leu190= | |
| NM_001167607.2:c.413-53A>G | NP_001161079.1:n.413-53A>G | |
| NM_001167607.3:c.413-53A>G | NP_001161079.1:n.413-53A>G |