HGVS | Genome Assembly |
---|---|
NC_000004.12:g.73412007G>C , CM000666.2:g.73412007G>C | GRCh38 |
NC_000004.11:g.74277724G>C , CM000666.1:g.74277724G>C | GRCh37 |
NC_000004.10:g.74496588G>C | NCBI36 |
NG_009291.1:g.12753G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295897.9:c.725G>C MANE Select | ENSP00000295897.4:p.Arg242Pro | |
ENST00000295897.8:c.725G>C | ENSP00000295897.4:p.Arg242Pro | |
ENST00000401494.7:c.380G>C | ENSP00000384695.3:p.Arg127Pro | |
ENST00000415165.6:c.149G>C | ENSP00000401820.2:p.Arg50Pro | |
ENST00000476441.6:c.*4G>C | ENSP00000423727.1:n.*4G>C | |
ENST00000503124.5:c.275G>C | ENSP00000421027.1:p.Arg92Pro | |
ENST00000505649.5:n.411G>C | ||
ENST00000507673.1:n.42G>C | ||
ENST00000509063.5:c.725G>C | ENSP00000422784.1:p.Arg242Pro | |
ENST00000511370.1:c.258G>C | ||
ENST00000621085.4:c.490+2645G>C | ENSP00000483421.1:n.490+2645G>C | |
ENST00000621628.4:c.486+2931G>C | ENSP00000480485.1:n.486+2931G>C | |
NM_000477.5:c.725G>C | NP_000468.1:p.Arg242Pro | |
NM_000477.6:c.725G>C | NP_000468.1:p.Arg242Pro | |
NM_000477.7:c.725G>C MANE Select | NP_000468.1:p.Arg242Pro |