HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189565435A>T , CM000664.2:g.189565435A>T | GRCh38 |
NC_000002.11:g.190430161A>T , CM000664.1:g.190430161A>T | GRCh37 |
NC_000002.10:g.190138406A>T | NCBI36 |
NG_009027.1:g.20377T>A , LRG_837:g.20377T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261024.7:c.679T>A MANE Select | ENSP00000261024.3:p.Tyr227Asn | |
ENST00000261024.6:c.679T>A | ENSP00000261024.2:p.Tyr227Asn | |
NM_014585.5:c.679T>A , LRG_837t1:c.679T>A | NP_055400.1:p.Tyr227Asn | |
XM_005246505.1:c.559T>A | XP_005246562.1:p.Tyr187Asn | |
XM_005246505.2:c.559T>A | XP_005246562.1:p.Tyr187Asn | |
XM_017003938.2:c.559T>A | XP_016859427.1:p.Tyr187Asn | |
NM_014585.6:c.679T>A MANE Select | NP_055400.1:p.Tyr227Asn |