HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41612370C>G , CM000679.2:g.41612370C>G | GRCh38 |
NC_000017.10:g.39768622C>G , CM000679.1:g.39768622C>G | GRCh37 |
NC_000017.9:g.37022148C>G | NCBI36 |
NG_008301.1:g.5458G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301653.9:c.319G>C MANE Select | ENSP00000301653.3:p.Ala107Pro | |
ENST00000301653.8:c.319G>C | ENSP00000301653.3:p.Ala107Pro | |
ENST00000588319.1:n.396G>C | ||
ENST00000593067.1:c.-312-84G>C | ENSP00000467124.1:n.-312-84G>C | |
NM_005557.3:c.319G>C | NP_005548.2:p.Ala107Pro | |
NM_005557.4:c.319G>C MANE Select | NP_005548.2:p.Ala107Pro |