HGVS | Genome Assembly |
---|---|
NC_000006.12:g.18130761A>T , CM000668.2:g.18130761A>T | GRCh38 |
NC_000006.11:g.18130992A>T , CM000668.1:g.18130992A>T | GRCh37 |
NC_000006.10:g.18238971A>T | NCBI36 |
NG_012137.2:g.29383T>A | |
NG_012137.3:g.29383T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000309983.5:c.645T>A MANE Select | ENSP00000312304.4:p.Arg215= | |
ENST00000309983.4:c.645T>A | ENSP00000312304.4:p.Arg215= | |
NM_000367.3:c.645T>A | NP_000358.1:p.Arg215= | |
XM_011514839.1:c.600T>A | XP_011513141.1:p.Arg200= | |
XM_011514840.1:c.576T>A | XP_011513142.1:p.Arg192= | |
NM_000367.4:c.645T>A | NP_000358.1:p.Arg215= | |
NM_001346817.1:c.645T>A | NP_001333746.1:p.Arg215= | |
NM_001346818.1:c.600T>A | NP_001333747.1:p.Arg200= | |
NM_000367.5:c.645T>A MANE Select | NP_000358.1:p.Arg215= |