HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48974715C>G , CM000681.2:g.48974715C>G | GRCh38 |
NC_000019.9:g.49477972C>G , CM000681.1:g.49477972C>G | GRCh37 |
NC_000019.8:g.54169784C>G | NCBI36 |
NG_012923.1:g.23639G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000323798.8:c.1327G>C MANE Select | ENSP00000317904.3:p.Val443Leu | |
ENST00000263276.6:c.1135G>C | ENSP00000263276.6:p.Val379Leu | |
ENST00000323798.7:c.1327G>C | ENSP00000317904.3:p.Val443Leu | |
ENST00000472004.5:n.82G>C | ||
ENST00000496048.1:n.234G>C | ||
NM_001161587.1:c.1135G>C | NP_001155059.1:p.Val379Leu | |
NM_002103.4:c.1327G>C | NP_002094.2:p.Val443Leu | |
NR_027763.1:n.1386G>C | ||
NM_002103.5:c.1327G>C MANE Select | NP_002094.2:p.Val443Leu | |
NM_001161587.2:c.1135G>C | NP_001155059.1:p.Val379Leu | |
NR_027763.2:n.1342G>C |