HGVS | Genome Assembly |
---|---|
NC_000006.12:g.123218718A>G , CM000668.2:g.123218718A>G | GRCh38 |
NC_000006.11:g.123539863A>G , CM000668.1:g.123539863A>G | GRCh37 |
NC_000006.10:g.123581562A>G | NCBI36 |
NG_030438.1:g.423376T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000334268.9:c.2073T>C MANE Select | ENSP00000333984.5:p.Cys691= | |
ENST00000334268.8:c.2073T>C | ENSP00000333984.5:p.Cys691= | |
NM_006073.3:c.2073T>C | NP_006064.2:p.Cys691= | |
XM_011535382.1:c.1992T>C | XP_011533684.1:p.Cys664= | |
NM_006073.4:c.2073T>C MANE Select | NP_006064.2:p.Cys691= |