HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110812139G>T , CM000672.2:g.110812139G>T | GRCh38 |
NC_000010.10:g.112571897G>T , CM000672.1:g.112571897G>T | GRCh37 |
NC_000010.9:g.112561887G>T | NCBI36 |
NG_021177.1:g.172743G>T , LRG_382:g.172743G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369519.4:c.1881-139G>T MANE Select | ENSP00000358532.3:n.1881-139G>T | |
ENST00000369519.3:c.1881-139G>T | ENSP00000358532.3:n.1881-139G>T | |
NM_001134363.2:c.1881-139G>T | NP_001127835.2:n.1881-139G>T | |
XM_011539697.1:c.1497-139G>T | XP_011537999.1:n.1497-139G>T | |
XM_017016103.2:c.1716-139G>T | XP_016871592.1:n.1716-139G>T | |
XM_017016104.2:c.1497-139G>T | XP_016871593.1:n.1497-139G>T | |
NM_001134363.3:c.1881-139G>T MANE Select | NP_001127835.2:n.1881-139G>T |