Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50192436T>G , CM000685.2:g.50192436T>G | GRCh38 |
| NC_000023.10:g.49957087T>G , CM000685.1:g.49957087T>G | GRCh37 |
| NC_000023.9:g.49843827T>G | NCBI36 |
| NG_012552.1:g.13578A>C | |
| NG_012552.2:g.13578A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358526.7:c.2277A>C MANE Select | ENSP00000351327.2:p.Val759= | |
| ENST00000358526.6:c.2277A>C | ENSP00000351327.2:p.Val759= | |
| ENST00000376064.7:c.2250A>C | ENSP00000365232.3:p.Val750= | |
| ENST00000481402.5:n.2389A>C | ||
| NM_003886.2:c.2277A>C | NP_003877.2:p.Val759= | |
| NM_139289.1:c.2250A>C | NP_647450.1:p.Val750= | |
| NM_003886.3:c.2277A>C MANE Select | NP_003877.2:p.Val759= | |
| NM_139289.2:c.2250A>C | NP_647450.1:p.Val750= |