HGVS | Genome Assembly |
---|---|
NC_000022.11:g.27751037G= , CM000684.2:g.27751037G= | GRCh38 |
NC_000022.10:g.28147025G= , CM000684.1:g.28147025G= | GRCh37 |
NC_000022.9:g.26477025G= | NCBI36 |
NG_023258.1:g.55462C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000703102.1:n.366C= | ||
ENST00000302326.5:c.3841C= MANE Select | ENSP00000304956.4:p.Leu1281= | |
ENST00000302326.4:c.3841C= | ENSP00000304956.4:p.Leu1281= | |
ENST00000424656.1:c.194C= | ||
ENST00000497225.1:n.197C= | ||
NM_002430.2:c.3841C= | NP_002421.3:p.Leu1281= | |
NM_002430.3:c.3841C= MANE Select | NP_002421.3:p.Leu1281= |