Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8077187G>C , CM000679.2:g.8077187G>C | GRCh38 |
| NC_000017.10:g.7980505G>C , CM000679.1:g.7980505G>C | GRCh37 |
| NC_000017.9:g.7921230G>C | NCBI36 |
| NG_007099.1:g.15517C>G | |
| NG_007099.2:g.15530C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001139.3:c.1078C>G MANE Select | NP_001130.1:p.Gln360Glu |
| ENST00000647874.1:c.1078C>G MANE Select | ENSP00000497784.1:p.Gln360Glu |
| NM_001139.2:c.1078C>G | NP_001130.1:p.Gln360Glu |
| ENST00000319144.4:c.1078C>G | ENSP00000315167.4:p.Gln360Glu |
| ENST00000577351.5:n.25C>G | |
| ENST00000583276.5:n.462C>G | |
| ENST00000584116.1:n.334C>G | |
| ENST00000649809.1:c.142C>G | ENSP00000496845.1:p.Gln48Glu |