HGVS | Genome Assembly |
---|---|
NC_000009.12:g.6595020A>C , CM000671.2:g.6595020A>C | GRCh38 |
NC_000009.11:g.6595020A>C , CM000671.1:g.6595020A>C | GRCh37 |
NC_000009.10:g.6585020A>C | NCBI36 |
NG_016397.1:g.55673T>G , LRG_643:g.55673T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000321612.8:c.1255T>G MANE Select | ENSP00000370737.4:p.Ser419Ala | |
ENST00000639364.1:n.955T>G | ||
ENST00000639443.1:n.823T>G | ||
ENST00000639493.1:n.407T>G | ||
ENST00000639954.1:n.963T>G | ||
ENST00000640592.1:n.1138T>G | ||
ENST00000321612.6:c.1255T>G | ENSP00000370737.3:p.Ser419Ala | |
ENST00000463305.1:n.339T>G | ||
NM_000170.2:c.1255T>G , LRG_643t1:c.1255T>G | NP_000161.2:p.Ser419Ala | |
NM_000170.3:c.1255T>G MANE Select | NP_000161.2:p.Ser419Ala |