HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48974700T>G , CM000681.2:g.48974700T>G | GRCh38 |
NC_000019.9:g.49477957T>G , CM000681.1:g.49477957T>G | GRCh37 |
NC_000019.8:g.54169769T>G | NCBI36 |
NG_012923.1:g.23654A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000323798.8:c.1342A>C MANE Select | ENSP00000317904.3:p.Met448Leu | |
ENST00000263276.6:c.1150A>C | ENSP00000263276.6:p.Met384Leu | |
ENST00000323798.7:c.1342A>C | ENSP00000317904.3:p.Met448Leu | |
ENST00000472004.5:n.97A>C | ||
ENST00000496048.1:n.249A>C | ||
NM_001161587.1:c.1150A>C | NP_001155059.1:p.Met384Leu | |
NM_002103.4:c.1342A>C | NP_002094.2:p.Met448Leu | |
NR_027763.1:n.1401A>C | ||
NM_002103.5:c.1342A>C MANE Select | NP_002094.2:p.Met448Leu | |
NM_001161587.2:c.1150A>C | NP_001155059.1:p.Met384Leu | |
NR_027763.2:n.1357A>C |