HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128335462C>T , CM000667.2:g.128335462C>T | GRCh38 |
NC_000005.9:g.127671154C>T , CM000667.1:g.127671154C>T | GRCh37 |
NC_000005.8:g.127699053C>T | NCBI36 |
NG_008750.1:g.207582G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703783.1:n.624G>A | ||
ENST00000703785.1:n.705G>A | ||
ENST00000262464.9:c.3840G>A MANE Select | ENSP00000262464.4:p.Ser1280= | |
ENST00000262464.8:c.3840G>A | ENSP00000262464.4:p.Ser1280= | |
ENST00000507835.5:c.390G>A | ENSP00000426839.1:p.Ser130= | |
ENST00000508053.5:c.3840G>A | ENSP00000424571.1:p.Ser1280= | |
ENST00000508989.5:c.3741G>A | ENSP00000425596.1:p.Ser1247= | |
ENST00000619499.4:c.3837G>A | ENSP00000482132.1:p.Ser1279= | |
NM_001999.3:c.3840G>A | NP_001990.2:p.Ser1280= | |
XM_017009228.2:c.3687G>A | XP_016864717.1:p.Ser1229= | |
NM_001999.4:c.3840G>A MANE Select | NP_001990.2:p.Ser1280= |