Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31001724A>C , CM000680.2:g.31001724A>C | GRCh38 |
| NC_000018.9:g.28581690A>C , CM000680.1:g.28581690A>C | GRCh37 |
| NC_000018.8:g.26835688A>C | NCBI36 |
| NG_016782.1:g.46092T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001941.5:c.2129T>G MANE Select | NP_001932.2:p.Leu710Ter |
| ENST00000360428.9:c.2129T>G MANE Select | ENSP00000353608.4:p.Leu710Ter |
| NM_001941.4:c.2129T>G | NP_001932.2:p.Leu710Ter |
| NM_024423.3:c.2129T>G | NP_077741.2:p.Leu710Ter |
| NM_024423.4:c.2129T>G | NP_077741.2:p.Leu710Ter |
| ENST00000360428.8:c.2129T>G | ENSP00000353608.4:p.Leu710Ter |
| ENST00000434452.5:c.2129T>G | ENSP00000392068.1:p.Leu710Ter |
| ENST00000584980.1:c.253T>G |