HGVS | Genome Assembly |
---|---|
NC_000012.12:g.110914287C>G , CM000674.2:g.110914287C>G | GRCh38 |
NC_000012.11:g.111352091C>G , CM000674.1:g.111352091C>G | GRCh37 |
NC_000012.10:g.109836474C>G | NCBI36 |
NG_007554.1:g.11291G>C , LRG_393:g.11291G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000228841.15:c.173G>C MANE Select | ENSP00000228841.8:p.Arg58Pro | |
ENST00000663220.1:c.116G>C | ENSP00000499568.1:p.Arg39Pro | |
ENST00000228841.12:c.173G>C | ENSP00000228841.7:p.Arg58Pro | |
ENST00000548438.1:c.131G>C | ENSP00000447154.1:p.Arg44Pro | |
ENST00000549029.1:n.4G>C | ||
NM_000432.3:c.173G>C , LRG_393t1:c.173G>C | NP_000423.2:p.Arg58Pro | |
NM_000432.4:c.173G>C MANE Select | NP_000423.2:p.Arg58Pro |