HGVS | Genome Assembly |
---|---|
NC_000001.11:g.216418599C>G , CM000663.2:g.216418599C>G | GRCh38 |
NC_000001.10:g.216591941C>G , CM000663.1:g.216591941C>G | GRCh37 |
NC_000001.9:g.214658564C>G | NCBI36 |
NG_009497.1:g.9798G>C | |
NG_009497.2:g.9850G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307340.8:c.566G>C MANE Select | ENSP00000305941.3:p.Arg189Pro | |
ENST00000674083.1:c.566G>C | ENSP00000501296.1:p.Arg189Pro | |
ENST00000307340.7:c.566G>C | ENSP00000305941.3:p.Arg189Pro | |
ENST00000366942.3:c.566G>C | ENSP00000355909.3:p.Arg189Pro | |
NM_007123.5:c.566G>C | NP_009054.5:p.Arg189Pro | |
NM_206933.2:c.566G>C | NP_996816.2:p.Arg189Pro | |
NM_206933.3:c.566G>C | NP_996816.2:p.Arg189Pro | |
NM_007123.6:c.566G>C | NP_009054.6:p.Arg189Pro | |
NM_206933.4:c.566G>C MANE Select | NP_996816.3:p.Arg189Pro |