Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40206302T>C , CM000677.2:g.40206302T>C | GRCh38 |
| NC_000015.9:g.40498503T>C , CM000677.1:g.40498503T>C | GRCh37 |
| NC_000015.8:g.38285795T>C | NCBI36 |
| NG_016338.1:g.50294T>C , LRG_489:g.50294T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287598.11:c.1853T>C MANE Select | ENSP00000287598.7:p.Val618Ala | |
| ENST00000287598.10:c.1853T>C | ENSP00000287598.6:p.Val618Ala | |
| ENST00000412359.7:c.1895T>C | ENSP00000398470.3:p.Val632Ala | |
| NM_001211.5:c.1853T>C , LRG_489t1:c.1853T>C | NP_001202.4:p.Val618Ala | |
| XR_001751506.1:n.218-26101A>G | ||
| NM_001211.6:c.1853T>C MANE Select | NP_001202.5:p.Val618Ala |