HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38675848A>C , CM000685.2:g.38675848A>C | GRCh38 |
NC_000023.10:g.38535102A>C , CM000685.1:g.38535102A>C | GRCh37 |
NC_000023.9:g.38420046A>C | NCBI36 |
NG_009160.1:g.119372A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378482.7:c.585A>C MANE Select | ENSP00000367743.2:p.Lys195Asn | |
ENST00000286824.6:c.636A>C | ENSP00000286824.6:p.Lys212Asn | |
ENST00000378482.6:c.585A>C | ENSP00000367743.2:p.Lys195Asn | |
ENST00000419600.3:n.529A>C | ||
ENST00000465127.1:c.675A>C | ENSP00000417050.1:p.Lys225Asn | |
ENST00000471410.5:c.*611A>C | ENSP00000419290.1:n.*611A>C | |
ENST00000475216.5:c.*578A>C | ENSP00000418586.1:n.*578A>C | |
NM_004615.3:c.585A>C | NP_004606.2:p.Lys195Asn | |
NM_004615.4:c.585A>C MANE Select | NP_004606.2:p.Lys195Asn |