HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271142G= , CM000668.2:g.31271142G= | GRCh38 |
NC_000006.11:g.31238919G= , CM000668.1:g.31238919G= | GRCh37 |
NC_000006.10:g.31346898G= | NCBI36 |
NG_029422.2:g.5990C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000376228.10:c.550C= MANE Select | ENSP00000365402.5:p.Leu184= | |
ENST00000376228.9:c.550C= | ENSP00000365402.5:p.Leu184= | |
ENST00000376237.8:c.*137C= | ENSP00000365412.4:n.*137C= | |
ENST00000383329.7:c.550C= | ENSP00000372819.3:p.Leu184= | |
ENST00000415537.1:c.548C= | ||
ENST00000484378.1:n.819C= | ||
ENST00000487245.5:n.909C= | ||
ENST00000495835.1:n.739C= | ||
NM_002117.5:c.550C= | NP_002108.4:p.Leu184= | |
NM_002117.6:c.550C= MANE Select | NP_002108.4:p.Leu184= |