HGVS | Genome Assembly |
---|---|
NC_000015.10:g.65077426T>C , CM000677.2:g.65077426T>C | GRCh38 |
NC_000015.9:g.65369764T>C , CM000677.1:g.65369764T>C | GRCh37 |
NC_000015.8:g.63156817T>C | NCBI36 |
NG_021411.1:g.5611T>C , LRG_682:g.5611T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000432196.5:c.611T>C MANE Select | ENSP00000388723.2:p.Val204Ala | |
ENST00000432196.3:c.611T>C | ENSP00000388723.2:p.Val204Ala | |
NM_001101362.2:c.611T>C , LRG_682t1:c.611T>C | NP_001094832.1:p.Val204Ala | |
NM_001101362.3:c.611T>C MANE Select | NP_001094832.1:p.Val204Ala |