HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128305045A>G , CM000667.2:g.128305045A>G | GRCh38 |
NC_000005.9:g.127640737A>G , CM000667.1:g.127640737A>G | GRCh37 |
NC_000005.8:g.127668636A>G | NCBI36 |
NG_008750.1:g.237999T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703783.1:n.2496T>C | ||
ENST00000703785.1:n.2415T>C | ||
ENST00000262464.9:c.5712T>C MANE Select | ENSP00000262464.4:p.Ser1904= | |
ENST00000262464.8:c.5712T>C | ENSP00000262464.4:p.Ser1904= | |
ENST00000508053.5:c.5712T>C | ENSP00000424571.1:p.Ser1904= | |
ENST00000619499.4:c.5709T>C | ENSP00000482132.1:p.Ser1903= | |
NM_001999.3:c.5712T>C | NP_001990.2:p.Ser1904= | |
XM_017009228.2:c.5559T>C | XP_016864717.1:p.Ser1853= | |
NM_001999.4:c.5712T>C MANE Select | NP_001990.2:p.Ser1904= |