HGVS | Genome Assembly |
---|---|
NC_000006.12:g.18130697C>A , CM000668.2:g.18130697C>A | GRCh38 |
NC_000006.11:g.18130928C>A , CM000668.1:g.18130928C>A | GRCh37 |
NC_000006.10:g.18238907C>A | NCBI36 |
NG_012137.2:g.29447G>T | |
NG_012137.3:g.29447G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000309983.5:c.709G>T MANE Select | ENSP00000312304.4:p.Glu237Ter | |
ENST00000309983.4:c.709G>T | ENSP00000312304.4:p.Glu237Ter | |
NM_000367.3:c.709G>T | NP_000358.1:p.Glu237Ter | |
XM_011514839.1:c.664G>T | XP_011513141.1:p.Glu222Ter | |
XM_011514840.1:c.640G>T | XP_011513142.1:p.Glu214Ter | |
NM_000367.4:c.709G>T | NP_000358.1:p.Glu237Ter | |
NM_001346817.1:c.709G>T | NP_001333746.1:p.Glu237Ter | |
NM_001346818.1:c.664G>T | NP_001333747.1:p.Glu222Ter | |
NM_000367.5:c.709G>T MANE Select | NP_000358.1:p.Glu237Ter |