HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48974699A>C , CM000681.2:g.48974699A>C | GRCh38 |
NC_000019.9:g.49477956A>C , CM000681.1:g.49477956A>C | GRCh37 |
NC_000019.8:g.54169768A>C | NCBI36 |
NG_012923.1:g.23655T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000323798.8:c.1343T>G MANE Select | ENSP00000317904.3:p.Met448Arg | |
ENST00000263276.6:c.1151T>G | ENSP00000263276.6:p.Met384Arg | |
ENST00000323798.7:c.1343T>G | ENSP00000317904.3:p.Met448Arg | |
ENST00000472004.5:n.98T>G | ||
ENST00000496048.1:n.250T>G | ||
NM_001161587.1:c.1151T>G | NP_001155059.1:p.Met384Arg | |
NM_002103.4:c.1343T>G | NP_002094.2:p.Met448Arg | |
NR_027763.1:n.1402T>G | ||
NM_002103.5:c.1343T>G MANE Select | NP_002094.2:p.Met448Arg | |
NM_001161587.2:c.1151T>G | NP_001155059.1:p.Met384Arg | |
NR_027763.2:n.1358T>G |