HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47332566C>A , CM000673.2:g.47332566C>A | GRCh38 |
NC_000011.9:g.47354117C>A , CM000673.1:g.47354117C>A | GRCh37 |
NC_000011.8:g.47310693C>A | NCBI36 |
NG_007667.1:g.25137G>T , LRG_386:g.25137G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000545968.6:c.3627G>T MANE Select | ENSP00000442795.1:p.Lys1209Asn | |
ENST00000256993.8:c.3627G>T | ENSP00000256993.5:p.Lys1209Asn | |
ENST00000399249.6:c.3627G>T | ENSP00000382193.2:p.Lys1209Asn | |
ENST00000545968.5:c.3627G>T | ENSP00000442795.1:p.Lys1209Asn | |
NM_000256.3:c.3627G>T , LRG_386t1:c.3627G>T MANE Select | NP_000247.2:p.Lys1209Asn | |
XM_011520117.1:c.3609G>T | XP_011518419.1:p.Lys1203Asn | |
XM_011520118.1:c.3546G>T | XP_011518420.1:p.Lys1182Asn |