HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41612303G>T , CM000679.2:g.41612303G>T | GRCh38 |
NC_000017.10:g.39768555G>T , CM000679.1:g.39768555G>T | GRCh37 |
NC_000017.9:g.37022081G>T | NCBI36 |
NG_008301.1:g.5525C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301653.9:c.386C>A MANE Select | ENSP00000301653.3:p.Ala129Asp | |
ENST00000301653.8:c.386C>A | ENSP00000301653.3:p.Ala129Asp | |
ENST00000588319.1:n.463C>A | ||
ENST00000593067.1:c.-312-17C>A | ENSP00000467124.1:n.-312-17C>A | |
NM_005557.3:c.386C>A | NP_005548.2:p.Ala129Asp | |
NM_005557.4:c.386C>A MANE Select | NP_005548.2:p.Ala129Asp |