HGVS | Genome Assembly |
---|---|
NC_000006.12:g.16327579C>G , CM000668.2:g.16327579C>G | GRCh38 |
NC_000006.11:g.16327810C>G , CM000668.1:g.16327810C>G | GRCh37 |
NC_000006.10:g.16435789C>G | NCBI36 |
NG_011571.1:g.438912G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000436367.6:c.732G>C MANE Select | ENSP00000416360.1:p.Gln244His | |
ENST00000244769.8:c.732G>C | ENSP00000244769.3:p.Gln244His | |
ENST00000436367.5:c.732G>C | ENSP00000416360.1:p.Gln244His | |
NM_000332.3:c.732G>C | NP_000323.2:p.Gln244His | |
NM_001128164.1:c.732G>C | NP_001121636.1:p.Gln244His | |
NM_001357857.1:c.*145G>C | NP_001344786.1:n.*145G>C | |
NM_001357857.2:c.*145G>C | NP_001344786.1:n.*145G>C | |
NM_001128164.2:c.732G>C MANE Select | NP_001121636.1:p.Gln244His | |
NM_000332.4:c.732G>C | NP_000323.2:p.Gln244His |