HGVS | Genome Assembly |
---|---|
NC_000010.11:g.67811606C>G , CM000672.2:g.67811606C>G | GRCh38 |
NC_000010.10:g.69571364C>G , CM000672.1:g.69571364C>G | GRCh37 |
NC_000010.9:g.69241370C>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000225171.7:c.215G>C MANE Select | ENSP00000225171.2:p.Arg72Pro | |
ENST00000225171.6:c.215G>C | ENSP00000225171.2:p.Arg72Pro | |
ENST00000339758.7:c.215G>C | ENSP00000343575.6:p.Arg72Pro | |
ENST00000480180.1:c.*234G>C | ENSP00000474804.1:n.*234G>C | |
ENST00000480963.5:c.*135G>C | ENSP00000473979.1:n.*135G>C | |
ENST00000483798.6:c.305G>C | ENSP00000474215.1:p.Arg102Pro | |
NM_021800.2:c.215G>C | NP_068572.1:p.Arg72Pro | |
NM_201262.1:c.215G>C | NP_957714.1:p.Arg72Pro | |
XM_011539967.1:c.245G>C | XP_011538269.1:p.Arg82Pro | |
XM_017016431.1:c.-32G>C | XP_016871920.1:n.-32G>C | |
XM_017016432.2:c.-32G>C | XP_016871921.1:n.-32G>C | |
NM_021800.3:c.215G>C MANE Select | NP_068572.1:p.Arg72Pro | |
NM_201262.2:c.215G>C | NP_957714.1:p.Arg72Pro |