HGVS | Genome Assembly |
---|---|
NC_000004.12:g.73404336G>C , CM000666.2:g.73404336G>C | GRCh38 |
NC_000004.11:g.74270053G>C , CM000666.1:g.74270053G>C | GRCh37 |
NC_000004.10:g.74488917G>C | NCBI36 |
NG_009291.1:g.5082G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295897.9:c.9G>C MANE Select | ENSP00000295897.4:p.Trp3Cys | |
ENST00000295897.8:c.9G>C | ENSP00000295897.4:p.Trp3Cys | |
ENST00000401494.7:c.9G>C | ENSP00000384695.3:p.Trp3Cys | |
ENST00000415165.6:c.9G>C | ENSP00000401820.2:p.Trp3Cys | |
ENST00000441319.5:c.48-33G>C | ENSP00000392541.1:n.48-33G>C | |
ENST00000476441.6:c.9G>C | ENSP00000423727.1:p.Trp3Cys | |
ENST00000503124.5:c.-172G>C | ENSP00000421027.1:n.-172G>C | |
ENST00000509063.5:c.9G>C | ENSP00000422784.1:p.Trp3Cys | |
ENST00000510166.5:n.50G>C | ||
ENST00000514786.1:n.48G>C | ||
ENST00000515133.5:n.50G>C | ||
ENST00000621085.4:c.9G>C | ENSP00000483421.1:p.Trp3Cys | |
ENST00000621628.4:c.9G>C | ENSP00000480485.1:p.Trp3Cys | |
NM_000477.5:c.9G>C | NP_000468.1:p.Trp3Cys | |
NM_000477.6:c.9G>C | NP_000468.1:p.Trp3Cys | |
NM_000477.7:c.9G>C MANE Select | NP_000468.1:p.Trp3Cys |