HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3154623A>G , CM000668.2:g.3154623A>G | GRCh38 |
NC_000006.11:g.3154857A>G , CM000668.1:g.3154857A>G | GRCh37 |
NC_000006.10:g.3099856A>G | NCBI36 |
NG_042223.1:g.7927T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333628.4:c.578T>C MANE Select | ENSP00000369703.2:p.Val193Ala | |
ENST00000679400.1:n.634T>C | ||
ENST00000679907.1:n.966T>C | ||
ENST00000680036.1:n.1360T>C | ||
ENST00000680967.1:n.1668T>C | ||
ENST00000333628.3:c.578T>C | ENSP00000369703.2:p.Val193Ala | |
ENST00000489942.1:n.773T>C | ||
NM_001069.2:c.578T>C | NP_001060.1:p.Val193Ala | |
NM_001310315.1:c.323T>C | NP_001297244.1:p.Val108Ala | |
NM_001069.3:c.578T>C MANE Select | NP_001060.1:p.Val193Ala | |
NM_001310315.2:c.323T>C | NP_001297244.1:p.Val108Ala |