HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6718368C>G , CM000681.2:g.6718368C>G | GRCh38 |
NC_000019.9:g.6718379C>G , CM000681.1:g.6718379C>G | GRCh37 |
NC_000019.8:g.6669379C>G | NCBI36 |
NG_009557.1:g.7284G>C , LRG_27:g.7284G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000594936.2:n.373G>C | ||
ENST00000695652.1:c.189G>C | ENSP00000512083.1:p.Lys63Asn | |
ENST00000695693.1:c.312G>C | ENSP00000512104.1:p.Lys104Asn | |
ENST00000245907.11:c.312G>C MANE Select | ENSP00000245907.4:p.Lys104Asn | |
ENST00000245907.10:c.312G>C | ENSP00000245907.4:p.Lys104Asn | |
ENST00000594936.1:n.373G>C | ||
ENST00000600744.1:c.189G>C | ENSP00000472044.1:p.Lys63Asn | |
NM_000064.3:c.312G>C | NP_000055.2:p.Lys104Asn | |
NM_000064.4:c.312G>C MANE Select | NP_000055.2:p.Lys104Asn |