HGVS | Genome Assembly |
---|---|
NC_000005.10:g.96429252A>T , CM000667.2:g.96429252A>T | GRCh38 |
NC_000005.9:g.95764956A>T , CM000667.1:g.95764956A>T | GRCh37 |
NC_000005.8:g.95790712A>T | NCBI36 |
NG_021161.1:g.9030T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311106.8:c.246T>A MANE Select | ENSP00000308024.2:p.Ser82Arg | |
ENST00000311106.7:c.246T>A | ENSP00000308024.2:p.Ser82Arg | |
ENST00000508626.5:c.105T>A | ENSP00000421600.1:p.Ser35Arg | |
ENST00000509190.1:c.246T>A | ENSP00000427294.1:p.Ser82Arg | |
NM_000439.4:c.246T>A | NP_000430.3:p.Ser82Arg | |
NM_001177875.1:c.105T>A | NP_001171346.1:p.Ser35Arg | |
NR_130776.1:n.354+49600A>T | ||
NM_000439.5:c.246T>A MANE Select | NP_000430.3:p.Ser82Arg | |
NM_001177875.2:c.105T>A | NP_001171346.1:p.Ser35Arg |