HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128300872T>G , CM000667.2:g.128300872T>G | GRCh38 |
NC_000005.9:g.127636564T>G , CM000667.1:g.127636564T>G | GRCh37 |
NC_000005.8:g.127664463T>G | NCBI36 |
NG_008750.1:g.242172A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703783.1:n.2895A>C | ||
ENST00000703785.1:n.2814A>C | ||
ENST00000262464.9:c.6111A>C MANE Select | ENSP00000262464.4:p.Gly2037= | |
ENST00000262464.8:c.6111A>C | ENSP00000262464.4:p.Gly2037= | |
ENST00000508053.5:c.6111A>C | ENSP00000424571.1:p.Gly2037= | |
ENST00000619499.4:c.6108A>C | ENSP00000482132.1:p.Gly2036= | |
NM_001999.3:c.6111A>C | NP_001990.2:p.Gly2037= | |
XM_017009228.2:c.5958A>C | XP_016864717.1:p.Gly1986= | |
NM_001999.4:c.6111A>C MANE Select | NP_001990.2:p.Gly2037= |