Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.729785G>C , CM000669.2:g.729785G>C | GRCh38 |
| NC_000007.13:g.769422G>C , CM000669.1:g.769422G>C | GRCh37 |
| NC_000007.12:g.735948G>C | NCBI36 |
| NG_033137.1:g.8085G>C | |
| NG_042811.1:g.2892C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017802.4:c.718G>C MANE Select | NP_060272.3:p.Gly240Arg |
| ENST00000297440.11:c.718G>C MANE Select | ENSP00000297440.6:p.Gly240Arg |
| NM_017802.3:c.718G>C | NP_060272.3:p.Gly240Arg |
| NR_075098.1:n.676G>C | |
| NR_075098.2:n.678G>C | |
| ENST00000297440.10:c.718G>C | ENSP00000297440.6:p.Gly240Arg |
| ENST00000437419.5:c.97+2470G>C | |
| ENST00000438961.1:n.187G>C | |
| ENST00000440747.5:c.122G>C | |
| XM_024446813.1:c.718G>C | XP_024302581.1:p.Gly240Arg |
| XM_024446814.1:c.112G>C | XP_024302582.1:p.Gly38Arg |