HGVS | Genome Assembly |
---|---|
NC_000018.10:g.24479706G>T , CM000680.2:g.24479706G>T | GRCh38 |
NC_000018.9:g.22059670G>T , CM000680.1:g.22059670G>T | GRCh37 |
NC_000018.8:g.20313668G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000256906.5:c.*2144G>T MANE Select | ENSP00000256906.4:n.*2144G>T | |
ENST00000256906.4:c.*2144G>T | ENSP00000256906.4:n.*2144G>T | |
NM_001143828.1:c.*2144G>T | NP_001137300.1:n.*2144G>T | |
NM_001160166.1:c.*2949G>T | NP_001153638.1:n.*2949G>T | |
NM_021624.3:c.*2144G>T | NP_067637.2:n.*2144G>T | |
XM_011526133.1:c.358-6964G>T | XP_011524435.1:n.358-6964G>T | |
NM_021624.4:c.*2144G>T MANE Select | NP_067637.2:n.*2144G>T | |
NM_001143828.2:c.*2144G>T | NP_001137300.1:n.*2144G>T | |
NM_001160166.2:c.*2949G>T | NP_001153638.1:n.*2949G>T |