Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46002642T>C , CM000683.2:g.46002642T>C | GRCh38 |
| NC_000021.8:g.47422556T>C , CM000683.1:g.47422556T>C | GRCh37 |
| NC_000021.7:g.46246984T>C | NCBI36 |
| NG_008674.1:g.25894T>C , LRG_475:g.25894T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001848.3:c.2366T>C MANE Select | NP_001839.2:p.Val789Ala |
| ENST00000361866.8:c.2366T>C MANE Select | ENSP00000355180.3:p.Val789Ala |
| NM_001848.2:c.2366T>C , LRG_475t1:c.2366T>C | NP_001839.2:p.Val789Ala |
| ENST00000361866.7:c.2366T>C | ENSP00000355180.3:p.Val789Ala |
| ENST00000463060.5:n.765T>C | |
| ENST00000463060.6:n.765T>C | |
| ENST00000486023.1:n.154T>C | |
| ENST00000498614.5:n.600T>C | |
| ENST00000612273.1:c.2360T>C | ENSP00000483630.1:p.Val787Ala |
| ENST00000612273.2:c.492T>C | |
| ENST00000682634.1:c.492T>C |