Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8077054A>C , CM000679.2:g.8077054A>C | GRCh38 |
| NC_000017.10:g.7980372A>C , CM000679.1:g.7980372A>C | GRCh37 |
| NC_000017.9:g.7921097A>C | NCBI36 |
| NG_007099.1:g.15650T>G | |
| NG_007099.2:g.15663T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001139.3:c.1211T>G MANE Select | NP_001130.1:p.Leu404Arg |
| ENST00000647874.1:c.1211T>G MANE Select | ENSP00000497784.1:p.Leu404Arg |
| NM_001139.2:c.1211T>G | NP_001130.1:p.Leu404Arg |
| ENST00000319144.4:c.1211T>G | ENSP00000315167.4:p.Leu404Arg |
| ENST00000577351.5:n.158T>G | |
| ENST00000583276.5:n.595T>G | |
| ENST00000584116.1:n.467T>G | |
| ENST00000649809.1:c.275T>G | ENSP00000496845.1:p.Leu92Arg |