HGVS | Genome Assembly |
---|---|
NC_000005.10:g.173232665C>G , CM000667.2:g.173232665C>G | GRCh38 |
NC_000005.9:g.172659668C>G , CM000667.1:g.172659668C>G | GRCh37 |
NC_000005.8:g.172592274C>G | NCBI36 |
NG_013340.1:g.7648G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000329198.5:c.879G>C MANE Select | ENSP00000327758.4:p.Val293= | |
ENST00000329198.4:c.879G>C | ENSP00000327758.4:p.Val293= | |
NM_001166175.1:c.*832G>C | NP_001159647.1:n.*832G>C | |
NM_001166176.1:c.*678G>C | NP_001159648.1:n.*678G>C | |
NM_004387.3:c.879G>C | NP_004378.1:p.Val293= | |
NM_004387.4:c.879G>C MANE Select | NP_004378.1:p.Val293= | |
NM_001166175.2:c.*832G>C | NP_001159647.1:n.*832G>C | |
NM_001166176.2:c.*678G>C | NP_001159648.1:n.*678G>C |