HGVS | Genome Assembly |
---|---|
NC_000007.14:g.4799634G>A , CM000669.2:g.4799634G>A | GRCh38 |
NC_000007.13:g.4839265G>A , CM000669.1:g.4839265G>A | GRCh37 |
NC_000007.12:g.4805791G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000399583.4:c.3118C>T MANE Select | ENSP00000382492.3:p.Leu1040= | |
ENST00000399583.3:c.3118C>T | ENSP00000382492.3:p.Leu1040= | |
ENST00000445392.5:c.*1889C>T | ENSP00000413403.1:n.*1889C>T | |
ENST00000472999.5:n.1142C>T | ||
ENST00000473130.5:n.1729C>T | ||
NM_018059.4:c.3118C>T | NP_060529.4:p.Leu1040= | |
NM_018059.5:c.3118C>T MANE Select | NP_060529.4:p.Leu1040= |