HGVS | Genome Assembly |
---|---|
NC_000018.10:g.31531309T= , CM000680.2:g.31531309T= | GRCh38 |
NC_000018.9:g.29111272T= , CM000680.1:g.29111272T= | GRCh37 |
NC_000018.8:g.27365270T= | NCBI36 |
NG_007072.3:g.38068T= , LRG_397:g.38068T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000683614.2:n.1168T= | ||
ENST00000683614.1:c.1168T= | ||
ENST00000261590.13:c.1280+57T= MANE Select | ENSP00000261590.8:n.1280+57T= | |
ENST00000261590.12:c.1280+57T= | ENSP00000261590.8:n.1280+57T= | |
NM_001943.3:c.1280+57T= , LRG_397t1:c.1280+57T= | NP_001934.2:n.1280+57T= | |
NM_001943.4:c.1280+57T= | NP_001934.2:n.1280+57T= | |
XM_024451095.1:c.746+57T= | XP_024306863.1:n.746+57T= | |
NM_001943.5:c.1280+57T= MANE Select | NP_001934.2:n.1280+57T= |