HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38675837G>C , CM000685.2:g.38675837G>C | GRCh38 |
NC_000023.10:g.38535091G>C , CM000685.1:g.38535091G>C | GRCh37 |
NC_000023.9:g.38420035G>C | NCBI36 |
NG_009160.1:g.119361G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378482.7:c.574G>C MANE Select | ENSP00000367743.2:p.Ala192Pro | |
ENST00000286824.6:c.625G>C | ENSP00000286824.6:p.Ala209Pro | |
ENST00000378482.6:c.574G>C | ENSP00000367743.2:p.Ala192Pro | |
ENST00000419600.3:n.518G>C | ||
ENST00000465127.1:c.664G>C | ENSP00000417050.1:p.Ala222Pro | |
ENST00000471410.5:c.*600G>C | ENSP00000419290.1:n.*600G>C | |
ENST00000475216.5:c.*567G>C | ENSP00000418586.1:n.*567G>C | |
NM_004615.3:c.574G>C | NP_004606.2:p.Ala192Pro | |
NM_004615.4:c.574G>C MANE Select | NP_004606.2:p.Ala192Pro |