HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44372409C>A , CM000679.2:g.44372409C>A | GRCh38 |
NC_000017.10:g.42449777C>A , CM000679.1:g.42449777C>A | GRCh37 |
NC_000017.9:g.39805303C>A | NCBI36 |
NG_008331.1:g.22097G>T , LRG_479:g.22097G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262407.6:c.3075G>T MANE Select | ENSP00000262407.5:p.Lys1025Asn | |
ENST00000648408.1:c.2389G>T | ||
ENST00000262407.5:c.3075G>T | ENSP00000262407.5:p.Lys1025Asn | |
ENST00000587295.5:c.268G>T | ||
ENST00000588098.1:c.52G>T | ||
NM_000419.3:c.3075G>T , LRG_479t1:c.3075G>T | NP_000410.2:p.Lys1025Asn | |
XM_011524749.1:c.2973G>T | XP_011523051.1:p.Lys991Asn | |
XM_011524750.1:c.2958G>T | XP_011523052.1:p.Lys986Asn | |
NM_000419.4:c.3075G>T | NP_000410.2:p.Lys1025Asn | |
NM_000419.5:c.3075G>T MANE Select | NP_000410.2:p.Lys1025Asn |