HGVS | Genome Assembly |
---|---|
NC_000017.11:g.63961332T>G , CM000679.2:g.63961332T>G | GRCh38 |
NC_000017.10:g.62038692T>G , CM000679.1:g.62038692T>G | GRCh37 |
NC_000017.9:g.59392424T>G | NCBI36 |
NG_011699.1:g.16587A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000435607.3:c.1706A>C MANE Select | ENSP00000396320.1:p.Asn569Thr | |
ENST00000578147.5:c.1706A>C | ENSP00000463963.1:p.Asn569Thr | |
ENST00000581514.1:n.362A>C | ||
NM_000334.4:c.1706A>C MANE Select | NP_000325.4:p.Asn569Thr | |
XM_005257566.3:c.1706A>C | XP_005257623.1:p.Asn569Thr | |
XR_934910.1:n.124+610T>G | ||
XR_001752969.1:n.1276+610T>G | ||
XR_934910.2:n.1276+610T>G |