HGVS | Genome Assembly |
---|---|
NC_000016.10:g.30993237C>G , CM000678.2:g.30993237C>G | GRCh38 |
NC_000016.9:g.31004558C>G , CM000678.1:g.31004558C>G | GRCh37 |
NC_000016.8:g.30912059C>G | NCBI36 |
NG_041829.1:g.22272G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000215095.11:c.679G>C MANE Select | ENSP00000215095.5:p.Glu227Gln | |
ENST00000565419.2:c.679G>C | ENSP00000455899.1:p.Glu227Gln | |
ENST00000215095.9:c.679G>C | ENSP00000215095.5:p.Glu227Gln | |
ENST00000565419.1:c.679G>C | ENSP00000455899.1:p.Glu227Gln | |
ENST00000569638.5:c.427G>C | ENSP00000457067.1:p.Glu143Gln | |
NM_052874.4:c.679G>C | NP_443106.1:p.Glu227Gln | |
XM_017022893.1:c.661G>C | XP_016878382.1:p.Glu221Gln | |
NM_052874.5:c.679G>C MANE Select | NP_443106.1:p.Glu227Gln |