HGVS | Genome Assembly |
---|---|
NC_000001.11:g.169541022G>C , CM000663.2:g.169541022G>C | GRCh38 |
NC_000001.10:g.169510260G>C , CM000663.1:g.169510260G>C | GRCh37 |
NC_000001.9:g.167776884G>C | NCBI36 |
NG_011806.1:g.50510C>G , LRG_553:g.50510C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000367797.9:c.4068C>G MANE Select | ENSP00000356771.3:p.Pro1356= | |
ENST00000367796.3:c.4083C>G | ENSP00000356770.3:p.Pro1361= | |
ENST00000367797.7:c.4068C>G | ENSP00000356771.3:p.Pro1356= | |
NM_000130.4:c.4068C>G , LRG_553t1:c.4068C>G | NP_000121.2:p.Pro1356= | |
XM_017000660.2:c.3657C>G | XP_016856149.1:p.Pro1219= | |
NM_000130.5:c.4068C>G MANE Select | NP_000121.2:p.Pro1356= |