HGVS | Genome Assembly |
---|---|
NC_000010.11:g.114045396C>G , CM000672.2:g.114045396C>G | GRCh38 |
NC_000010.10:g.115805155C>G , CM000672.1:g.115805155C>G | GRCh37 |
NC_000010.9:g.115795145C>G | NCBI36 |
NG_012187.1:g.6350C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369295.4:c.1264C>G MANE Select | ENSP00000358301.2:p.Pro422Ala | |
ENST00000369295.3:c.1264C>G | ENSP00000358301.2:p.Pro422Ala | |
NM_000684.2:c.1264C>G | NP_000675.1:p.Pro422Ala | |
NM_000684.3:c.1264C>G MANE Select | NP_000675.1:p.Pro422Ala |