HGVS | Genome Assembly |
---|---|
NC_000005.10:g.135028737T>C , CM000667.2:g.135028737T>C | GRCh38 |
NC_000005.9:g.134364427T>C , CM000667.1:g.134364427T>C | GRCh37 |
NC_000005.8:g.134392326T>C | NCBI36 |
NG_012114.1:g.10538A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000265340.12:c.*42A>G MANE Select | ENSP00000265340.6:n.*42A>G | |
ENST00000265340.11:c.*42A>G | ENSP00000265340.6:n.*42A>G | |
ENST00000506438.5:c.*42A>G | ENSP00000427542.1:n.*42A>G | |
NM_002653.4:c.*42A>G | NP_002644.4:n.*42A>G | |
NM_002653.5:c.*42A>G MANE Select | NP_002644.4:n.*42A>G |