HGVS | Genome Assembly |
---|---|
NC_000005.10:g.44388448A>G , CM000667.2:g.44388448A>G | GRCh38 |
NC_000005.9:g.44388550A>G , CM000667.1:g.44388550A>G | GRCh37 |
NC_000005.8:g.44424307A>G | NCBI36 |
NG_011446.1:g.5235T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264664.5:c.235T>C MANE Select | ENSP00000264664.4:p.Trp79Arg | |
ENST00000264664.4:c.235T>C | ENSP00000264664.4:p.Trp79Arg | |
NM_004465.1:c.235T>C | NP_004456.1:p.Trp79Arg | |
XM_005248264.2:c.235T>C | XP_005248321.1:p.Trp79Arg | |
XM_005248264.4:c.235T>C | XP_005248321.1:p.Trp79Arg | |
NM_004465.2:c.235T>C MANE Select | NP_004456.1:p.Trp79Arg |