HGVS | Genome Assembly |
---|---|
NC_000009.12:g.6595117G>C , CM000671.2:g.6595117G>C | GRCh38 |
NC_000009.11:g.6595117G>C , CM000671.1:g.6595117G>C | GRCh37 |
NC_000009.10:g.6585117G>C | NCBI36 |
NG_016397.1:g.55576C>G , LRG_643:g.55576C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000321612.8:c.1158C>G MANE Select | ENSP00000370737.4:p.Ala386= | |
ENST00000638654.1:c.405C>G | ENSP00000491101.1:p.Ala135= | |
ENST00000639364.1:n.858C>G | ||
ENST00000639443.1:n.726C>G | ||
ENST00000639493.1:n.310C>G | ||
ENST00000639954.1:n.866C>G | ||
ENST00000640592.1:n.1041C>G | ||
ENST00000321612.6:c.1158C>G | ENSP00000370737.3:p.Ala386= | |
ENST00000463305.1:n.242C>G | ||
NM_000170.2:c.1158C>G , LRG_643t1:c.1158C>G | NP_000161.2:p.Ala386= | |
NM_000170.3:c.1158C>G MANE Select | NP_000161.2:p.Ala386= |