HGVS | Genome Assembly |
---|---|
NC_000015.10:g.65077428G>C , CM000677.2:g.65077428G>C | GRCh38 |
NC_000015.9:g.65369766G>C , CM000677.1:g.65369766G>C | GRCh37 |
NC_000015.8:g.63156819G>C | NCBI36 |
NG_021411.1:g.5613G>C , LRG_682:g.5613G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000432196.5:c.613G>C MANE Select | ENSP00000388723.2:p.Ala205Pro | |
ENST00000432196.3:c.613G>C | ENSP00000388723.2:p.Ala205Pro | |
NM_001101362.2:c.613G>C , LRG_682t1:c.613G>C | NP_001094832.1:p.Ala205Pro | |
NM_001101362.3:c.613G>C MANE Select | NP_001094832.1:p.Ala205Pro |