HGVS | Genome Assembly |
---|---|
NC_000001.11:g.169541121T>G , CM000663.2:g.169541121T>G | GRCh38 |
NC_000001.10:g.169510359T>G , CM000663.1:g.169510359T>G | GRCh37 |
NC_000001.9:g.167776983T>G | NCBI36 |
NG_011806.1:g.50411A>C , LRG_553:g.50411A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367797.9:c.3969A>C MANE Select | ENSP00000356771.3:p.Pro1323= | |
ENST00000367796.3:c.3984A>C | ENSP00000356770.3:p.Pro1328= | |
ENST00000367797.7:c.3969A>C | ENSP00000356771.3:p.Pro1323= | |
NM_000130.4:c.3969A>C , LRG_553t1:c.3969A>C | NP_000121.2:p.Pro1323= | |
XM_017000660.2:c.3558A>C | XP_016856149.1:p.Pro1186= | |
NM_000130.5:c.3969A>C MANE Select | NP_000121.2:p.Pro1323= |