HGVS | Genome Assembly |
---|---|
NC_000006.12:g.18130771C>A , CM000668.2:g.18130771C>A | GRCh38 |
NC_000006.11:g.18131002C>A , CM000668.1:g.18131002C>A | GRCh37 |
NC_000006.10:g.18238981C>A | NCBI36 |
NG_012137.2:g.29373G>T | |
NG_012137.3:g.29373G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000309983.5:c.635G>T MANE Select | ENSP00000312304.4:p.Cys212Phe | |
ENST00000309983.4:c.635G>T | ENSP00000312304.4:p.Cys212Phe | |
NM_000367.3:c.635G>T | NP_000358.1:p.Cys212Phe | |
XM_011514839.1:c.590G>T | XP_011513141.1:p.Cys197Phe | |
XM_011514840.1:c.566G>T | XP_011513142.1:p.Cys189Phe | |
NM_000367.4:c.635G>T | NP_000358.1:p.Cys212Phe | |
NM_001346817.1:c.635G>T | NP_001333746.1:p.Cys212Phe | |
NM_001346818.1:c.590G>T | NP_001333747.1:p.Cys197Phe | |
NM_000367.5:c.635G>T MANE Select | NP_000358.1:p.Cys212Phe |