HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110812346C>T , CM000672.2:g.110812346C>T | GRCh38 |
NC_000010.10:g.112572104C>T , CM000672.1:g.112572104C>T | GRCh37 |
NC_000010.9:g.112562094C>T | NCBI36 |
NG_021177.1:g.172950C>T , LRG_382:g.172950C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369519.4:c.1949C>T MANE Select | ENSP00000358532.3:p.Pro650Leu | |
ENST00000369519.3:c.1949C>T | ENSP00000358532.3:p.Pro650Leu | |
NM_001134363.2:c.1949C>T | NP_001127835.2:p.Pro650Leu | |
XM_011539697.1:c.1565C>T | XP_011537999.1:p.Pro522Leu | |
XM_017016103.2:c.1784C>T | XP_016871592.1:p.Pro595Leu | |
XM_017016104.2:c.1565C>T | XP_016871593.1:p.Pro522Leu | |
NM_001134363.3:c.1949C>T MANE Select | NP_001127835.2:p.Pro650Leu |