HGVS | Genome Assembly |
---|---|
NC_000010.11:g.104034713G>C , CM000672.2:g.104034713G>C | GRCh38 |
NC_000010.10:g.105794471G>C , CM000672.1:g.105794471G>C | GRCh37 |
NC_000010.9:g.105784461G>C | NCBI36 |
NG_007069.1:g.56168C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000369733.8:c.3428C>G | ENSP00000358748.3:p.Pro1143Arg | |
ENST00000648076.2:c.3674C>G MANE Select | ENSP00000497653.1:p.Pro1225Arg | |
ENST00000353479.9:c.3674C>G | ENSP00000340937.5:p.Pro1225Arg | |
ENST00000369733.7:c.3428C>G | ENSP00000358748.3:p.Pro1143Arg | |
NM_000494.3:c.3674C>G | NP_000485.3:p.Pro1225Arg | |
NM_000494.4:c.3674C>G MANE Select | NP_000485.3:p.Pro1225Arg |