HGVS | Genome Assembly |
---|---|
NC_000016.10:g.1985959G>C , CM000678.2:g.1985959G>C | GRCh38 |
NC_000016.9:g.2035960G>C , CM000678.1:g.2035960G>C | GRCh37 |
NC_000016.8:g.1975961G>C | NCBI36 |
NG_016288.1:g.6811G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000567719.2:c.324G>C | ENSP00000455885.1:p.Lys108Asn | |
ENST00000248114.7:c.549G>C MANE Select | ENSP00000248114.6:p.Lys183Asn | |
ENST00000248114.6:c.549G>C | ENSP00000248114.6:p.Lys183Asn | |
ENST00000565658.1:n.706G>C | ||
ENST00000567719.1:c.324G>C | ENSP00000455885.1:p.Lys108Asn | |
ENST00000569451.1:c.*22G>C | ENSP00000456432.1:n.*22G>C | |
NM_005262.2:c.549G>C | NP_005253.3:p.Lys183Asn | |
NM_005262.3:c.549G>C MANE Select | NP_005253.3:p.Lys183Asn |