HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110812550T>C , CM000672.2:g.110812550T>C | GRCh38 |
NC_000010.10:g.112572308T>C , CM000672.1:g.112572308T>C | GRCh37 |
NC_000010.9:g.112562298T>C | NCBI36 |
NG_021177.1:g.173154T>C , LRG_382:g.173154T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369519.4:c.2153T>C MANE Select | ENSP00000358532.3:p.Leu718Pro | |
ENST00000369519.3:c.2153T>C | ENSP00000358532.3:p.Leu718Pro | |
NM_001134363.2:c.2153T>C | NP_001127835.2:p.Leu718Pro | |
XM_011539697.1:c.1769T>C | XP_011537999.1:p.Leu590Pro | |
XM_017016103.2:c.1988T>C | XP_016871592.1:p.Leu663Pro | |
XM_017016104.2:c.1769T>C | XP_016871593.1:p.Leu590Pro | |
NM_001134363.3:c.2153T>C MANE Select | NP_001127835.2:p.Leu718Pro |