Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103056852A>G , CM000672.2:g.103056852A>G | GRCh38 |
| NC_000010.10:g.104816609A>G , CM000672.1:g.104816609A>G | GRCh37 |
| NC_000010.9:g.104806599A>G | NCBI36 |
| NG_031932.1:g.143535A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369878.9:c.1961A>G MANE Select | ENSP00000358894.3:p.Lys654Arg | |
| ENST00000369878.8:c.1961A>G | ENSP00000358894.3:p.Lys654Arg | |
| ENST00000433628.2:c.1961A>G | ENSP00000392875.2:p.Lys654Arg | |
| NM_017649.4:c.1961A>G | NP_060119.3:p.Lys654Arg | |
| NM_199076.2:c.1961A>G | NP_951058.1:p.Lys654Arg | |
| XR_001747118.1:n.2214A>G | ||
| XR_001747119.2:n.2214A>G | ||
| XR_001747121.1:n.2244A>G | ||
| NM_017649.5:c.1961A>G MANE Select | NP_060119.3:p.Lys654Arg | |
| NM_199076.3:c.1961A>G | NP_951058.1:p.Lys654Arg |