HGVS | Genome Assembly |
---|---|
NC_000017.11:g.74919901A>T , CM000679.2:g.74919901A>T | GRCh38 |
NC_000017.10:g.72915996A>T , CM000679.1:g.72915996A>T | GRCh37 |
NC_000017.9:g.70427591A>T | NCBI36 |
NG_007882.1:g.8356T>A | |
NG_033062.1:g.627A>T | |
NG_007882.2:g.8363T>A | |
NG_033062.2:g.627A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000614341.5:c.935T>A MANE Select | ENSP00000480279.1:p.Leu312Gln | |
ENST00000579243.1:c.*534T>A | ENSP00000462568.1:n.*534T>A | |
ENST00000614341.4:c.935T>A | ENSP00000480279.1:p.Leu312Gln | |
NM_001282489.2:c.626T>A | NP_001269418.1:p.Leu209Gln | |
NM_173477.4:c.935T>A | NP_775748.2:p.Leu312Gln | |
XM_011524296.1:c.626T>A | XP_011522598.1:p.Leu209Gln | |
XM_011524296.2:c.626T>A | XP_011522598.1:p.Leu209Gln | |
NM_173477.5:c.935T>A MANE Select | NP_775748.2:p.Leu312Gln | |
NM_001282489.3:c.626T>A | NP_001269418.1:p.Leu209Gln |