HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94008271T>G , CM000663.2:g.94008271T>G | GRCh38 |
NC_000001.10:g.94473827T>G , CM000663.1:g.94473827T>G | GRCh37 |
NC_000001.9:g.94246415T>G | NCBI36 |
NG_009073.1:g.117879A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.5862A>C MANE Select | ENSP00000359245.3:p.Ala1954= | |
ENST00000370225.3:c.5862A>C | ENSP00000359245.3:p.Ala1954= | |
ENST00000465352.1:n.278A>C | ||
ENST00000536513.5:c.2238A>C | ENSP00000439707.2:p.Ala746= | |
NM_000350.2:c.5862A>C | NP_000341.2:p.Ala1954= | |
NM_000350.3:c.5862A>C MANE Select | NP_000341.2:p.Ala1954= |