HGVS | Genome Assembly |
---|---|
NC_000007.14:g.142957875T>C , CM000669.2:g.142957875T>C | GRCh38 |
NC_000007.13:g.142654962T>C , CM000669.1:g.142654962T>C | GRCh37 |
NC_000007.12:g.142365084T>C | NCBI36 |
NG_007492.1:g.9542A>G | |
NG_007492.2:g.9542A>G | |
NG_007492.3:g.9542A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355265.7:c.624A>G MANE Select | ENSP00000347409.2:p.Arg208= | |
ENST00000467543.6:c.*476A>G | ENSP00000420011.2:n.*476A>G | |
ENST00000355265.6:c.624A>G | ENSP00000347409.2:p.Arg208= | |
ENST00000467543.5:c.567A>G | ENSP00000420011.1:p.Arg189= | |
ENST00000476829.5:c.525+429A>G | ENSP00000419889.1:n.525+429A>G | |
ENST00000479768.6:n.742A>G | ||
ENST00000494148.1:n.223A>G | ||
NM_000420.2:c.624A>G | NP_000411.1:p.Arg208= | |
XM_005249993.2:c.660A>G | XP_005250050.1:p.Arg220= | |
NM_000420.3:c.624A>G MANE Select | NP_000411.1:p.Arg208= |