HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44372405T>A , CM000679.2:g.44372405T>A | GRCh38 |
NC_000017.10:g.42449773T>A , CM000679.1:g.42449773T>A | GRCh37 |
NC_000017.9:g.39805299T>A | NCBI36 |
NG_008331.1:g.22101A>T , LRG_479:g.22101A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262407.6:c.3079A>T MANE Select | ENSP00000262407.5:p.Asn1027Tyr | |
ENST00000648408.1:c.2393A>T | ||
ENST00000262407.5:c.3079A>T | ENSP00000262407.5:p.Asn1027Tyr | |
ENST00000587295.5:c.272A>T | ||
ENST00000588098.1:c.56A>T | ||
NM_000419.3:c.3079A>T , LRG_479t1:c.3079A>T | NP_000410.2:p.Asn1027Tyr | |
XM_011524749.1:c.2977A>T | XP_011523051.1:p.Asn993Tyr | |
XM_011524750.1:c.2962A>T | XP_011523052.1:p.Asn988Tyr | |
NM_000419.4:c.3079A>T | NP_000410.2:p.Asn1027Tyr | |
NM_000419.5:c.3079A>T MANE Select | NP_000410.2:p.Asn1027Tyr |