HGVS | Genome Assembly |
---|---|
NC_000004.12:g.73413587G>C , CM000666.2:g.73413587G>C | GRCh38 |
NC_000004.11:g.74279304G>C , CM000666.1:g.74279304G>C | GRCh37 |
NC_000004.10:g.74498168G>C | NCBI36 |
NG_009291.1:g.14333G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295897.9:c.1011G>C MANE Select | ENSP00000295897.4:p.Lys337Asn | |
ENST00000295897.8:c.1011G>C | ENSP00000295897.4:p.Lys337Asn | |
ENST00000401494.7:c.666G>C | ENSP00000384695.3:p.Lys222Asn | |
ENST00000415165.6:c.435G>C | ENSP00000401820.2:p.Lys145Asn | |
ENST00000476441.6:c.*290G>C | ENSP00000423727.1:n.*290G>C | |
ENST00000484992.1:n.331G>C | ||
ENST00000503124.5:c.561G>C | ENSP00000421027.1:p.Lys187Asn | |
ENST00000504043.1:n.14G>C | ||
ENST00000505649.5:n.697G>C | ||
ENST00000509063.5:c.1011G>C | ENSP00000422784.1:p.Lys337Asn | |
ENST00000511370.1:c.544G>C | ||
ENST00000621085.4:c.491-1519G>C | ENSP00000483421.1:n.491-1519G>C | |
ENST00000621628.4:c.487-1515G>C | ENSP00000480485.1:n.487-1515G>C | |
NM_000477.5:c.1011G>C | NP_000468.1:p.Lys337Asn | |
NM_000477.6:c.1011G>C | NP_000468.1:p.Lys337Asn | |
NM_000477.7:c.1011G>C MANE Select | NP_000468.1:p.Lys337Asn |