HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41612262C>G , CM000679.2:g.41612262C>G | GRCh38 |
NC_000017.10:g.39768514C>G , CM000679.1:g.39768514C>G | GRCh37 |
NC_000017.9:g.37022040C>G | NCBI36 |
NG_008301.1:g.5566G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301653.9:c.427G>C MANE Select | ENSP00000301653.3:p.Ala143Pro | |
ENST00000301653.8:c.427G>C | ENSP00000301653.3:p.Ala143Pro | |
ENST00000588319.1:n.504G>C | ||
ENST00000593067.1:c.-288G>C | ENSP00000467124.1:n.-288G>C | |
NM_005557.3:c.427G>C | NP_005548.2:p.Ala143Pro | |
NM_005557.4:c.427G>C MANE Select | NP_005548.2:p.Ala143Pro |