HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23431784T>G , CM000676.2:g.23431784T>G | GRCh38 |
NC_000014.8:g.23900993T>G , CM000676.1:g.23900993T>G | GRCh37 |
NC_000014.7:g.22970833T>G | NCBI36 |
NG_007884.1:g.8878A>C , LRG_384:g.8878A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.616A>C MANE Select | ENSP00000347507.3:p.Lys206Gln | |
ENST00000355349.3:c.616A>C | ENSP00000347507.3:p.Lys206Gln | |
NM_000257.3:c.616A>C | NP_000248.2:p.Lys206Gln | |
XR_245686.3:n.722A>C | ||
XM_017021340.1:c.616A>C | XP_016876829.1:p.Lys206Gln | |
NM_000257.4:c.616A>C MANE Select | NP_000248.2:p.Lys206Gln |