HGVS | Genome Assembly |
---|---|
NC_000005.10:g.135031914C>G , CM000667.2:g.135031914C>G | GRCh38 |
NC_000005.9:g.134367604C>G , CM000667.1:g.134367604C>G | GRCh37 |
NC_000005.8:g.134395503C>G | NCBI36 |
NG_012114.1:g.7361G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000265340.12:c.170-406G>C MANE Select | ENSP00000265340.6:n.170-406G>C | |
ENST00000265340.11:c.170-406G>C | ENSP00000265340.6:n.170-406G>C | |
ENST00000502676.1:c.170-406G>C | ENSP00000423624.1:n.170-406G>C | |
ENST00000503586.1:c.292-406G>C | ||
ENST00000504936.1:n.97G>C | ||
ENST00000506438.5:c.170-406G>C | ENSP00000427542.1:n.170-406G>C | |
ENST00000507253.5:c.170-406G>C | ENSP00000422908.1:n.170-406G>C | |
NM_002653.4:c.170-406G>C | NP_002644.4:n.170-406G>C | |
NM_002653.5:c.170-406G>C MANE Select | NP_002644.4:n.170-406G>C |