Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65077805G>C , CM000677.2:g.65077805G>C | GRCh38 |
| NC_000015.9:g.65370143G>C , CM000677.1:g.65370143G>C | GRCh37 |
| NC_000015.8:g.63157196G>C | NCBI36 |
| NG_021411.1:g.5990G>C , LRG_682:g.5990G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432196.5:c.990G>C MANE Select | ENSP00000388723.2:p.Trp330Cys | |
| ENST00000432196.3:c.990G>C | ENSP00000388723.2:p.Trp330Cys | |
| NM_001101362.2:c.990G>C , LRG_682t1:c.990G>C | NP_001094832.1:p.Trp330Cys | |
| NM_001101362.3:c.990G>C MANE Select | NP_001094832.1:p.Trp330Cys |