HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94021850C>T , CM000663.2:g.94021850C>T | GRCh38 |
NC_000001.10:g.94487406C>T , CM000663.1:g.94487406C>T | GRCh37 |
NC_000001.9:g.94259994C>T | NCBI36 |
NG_009073.1:g.104300G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000370225.4:c.4769G>A MANE Select | ENSP00000359245.3:p.Ser1590Asn | |
ENST00000370225.3:c.4769G>A | ENSP00000359245.3:p.Ser1590Asn | |
ENST00000460514.1:n.263G>A | ||
ENST00000536513.5:c.1145G>A | ENSP00000439707.2:p.Ser382Asn | |
NM_000350.2:c.4769G>A | NP_000341.2:p.Ser1590Asn | |
NM_000350.3:c.4769G>A MANE Select | NP_000341.2:p.Ser1590Asn |