HGVS | Genome Assembly |
---|---|
NC_000005.10:g.135031138C>G , CM000667.2:g.135031138C>G | GRCh38 |
NC_000005.9:g.134366828C>G , CM000667.1:g.134366828C>G | GRCh37 |
NC_000005.8:g.134394727C>G | NCBI36 |
NG_012114.1:g.8137G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000265340.12:c.402+138G>C MANE Select | ENSP00000265340.6:n.402+138G>C | |
ENST00000265340.11:c.402+138G>C | ENSP00000265340.6:n.402+138G>C | |
ENST00000503586.1:c.524+138G>C | ||
ENST00000504936.1:n.735+138G>C | ||
ENST00000506438.5:c.402+138G>C | ENSP00000427542.1:n.402+138G>C | |
NM_002653.4:c.402+138G>C | NP_002644.4:n.402+138G>C | |
NM_002653.5:c.402+138G>C MANE Select | NP_002644.4:n.402+138G>C |