HGVS | Genome Assembly |
---|---|
NC_000002.12:g.74145287C>A , CM000664.2:g.74145287C>A | GRCh38 |
NC_000002.11:g.74372414C>A , CM000664.1:g.74372414C>A | GRCh37 |
NC_000002.10:g.74225922C>A | NCBI36 |
NG_031910.1:g.7626G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000327428.10:c.71G>T MANE Select | ENSP00000331369.5:p.Arg24Leu | |
ENST00000295326.4:c.71G>T | ENSP00000295326.4:p.Arg24Leu | |
ENST00000327428.9:c.71G>T | ENSP00000331369.5:p.Arg24Leu | |
ENST00000469676.1:n.1094G>T | ||
ENST00000477685.5:n.222G>T | ||
ENST00000484655.1:n.2626G>T | ||
NM_001035505.1:c.71G>T | NP_001030582.1:p.Arg24Leu | |
NM_212552.2:c.71G>T | NP_997717.2:p.Arg24Leu | |
NM_212552.3:c.71G>T MANE Select | NP_997717.2:p.Arg24Leu | |
NM_001035505.2:c.71G>T | NP_001030582.1:p.Arg24Leu |