HGVS | Genome Assembly |
---|---|
NC_000007.14:g.27163530G>C , CM000669.2:g.27163530G>C | GRCh38 |
NC_000007.13:g.27203149G>C , CM000669.1:g.27203149G>C | GRCh37 |
NC_000007.12:g.27169674G>C | NCBI36 |
NG_029923.1:g.7001C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000343483.7:c.*73C>G MANE Select | ENSP00000343619.6:n.*73C>G | |
ENST00000343483.6:c.*73C>G | ENSP00000343619.6:n.*73C>G | |
ENST00000396345.1:c.*398C>G | ENSP00000379634.1:n.*398C>G | |
ENST00000487384.5:n.470C>G | ||
ENST00000497089.1:n.463C>G | ||
NM_152739.3:c.*73C>G | NP_689952.1:n.*73C>G | |
NR_037940.1:n.1018C>G | ||
NM_152739.4:c.*73C>G MANE Select | NP_689952.1:n.*73C>G |