HGVS | Genome Assembly |
---|---|
NC_000017.11:g.8015817T>G , CM000679.2:g.8015817T>G | GRCh38 |
NC_000017.10:g.7919135T>G , CM000679.1:g.7919135T>G | GRCh37 |
NC_000017.9:g.7859860T>G | NCBI36 |
NG_009092.1:g.18148T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000254854.5:c.3019T>G MANE Select | ENSP00000254854.4:p.Ser1007Ala | |
ENST00000254854.4:c.3019T>G | ENSP00000254854.4:p.Ser1007Ala | |
NM_000180.3:c.3019T>G | NP_000171.1:p.Ser1007Ala | |
XM_011523816.1:c.3019T>G | XP_011522118.1:p.Ser1007Ala | |
NM_000180.4:c.3019T>G MANE Select | NP_000171.1:p.Ser1007Ala |