HGVS | Genome Assembly |
---|---|
NC_000006.12:g.33669001A>T , CM000668.2:g.33669001A>T | GRCh38 |
NC_000006.11:g.33636778A>T , CM000668.1:g.33636778A>T | GRCh37 |
NC_000006.10:g.33744756A>T | NCBI36 |
NG_027729.1:g.52623A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000605930.3:c.2034A>T MANE Select | ENSP00000475177.1:p.Gln678His | |
ENST00000374316.9:c.2034A>T | ENSP00000363435.4:p.Gln678His | |
ENST00000605930.2:c.2034A>T | ENSP00000475177.1:p.Gln678His | |
NM_002224.3:c.2034A>T | NP_002215.2:p.Gln678His | |
XM_011514576.1:c.2103A>T | XP_011512878.1:p.Gln701His | |
XM_011514577.1:c.1851A>T | XP_011512879.1:p.Gln617His | |
XM_011514577.3:c.1851A>T | XP_011512879.1:p.Gln617His | |
XM_017010832.1:c.2034A>T | XP_016866321.1:p.Gln678His | |
NM_002224.4:c.2034A>T MANE Select | NP_002215.2:p.Gln678His |