HGVS | Genome Assembly |
---|---|
NC_000023.11:g.25015611A>G , CM000685.2:g.25015611A>G | GRCh38 |
NC_000023.10:g.25033728A>G , CM000685.1:g.25033728A>G | GRCh37 |
NC_000023.9:g.24943649A>G | NCBI36 |
NG_008281.1:g.5338T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000379044.5:c.127T>C MANE Select | ENSP00000368332.4:p.Leu43= | |
ENST00000636609.1:n.70T>C | ||
ENST00000379044.4:c.127T>C | ENSP00000368332.4:p.Leu43= | |
NM_139058.2:c.127T>C | NP_620689.1:p.Leu43= | |
NM_139058.3:c.127T>C MANE Select | NP_620689.1:p.Leu43= |