HGVS | Genome Assembly |
---|---|
NC_000008.11:g.64624440T>G , CM000670.2:g.64624440T>G | GRCh38 |
NC_000008.10:g.65536997T>G , CM000670.1:g.65536997T>G | GRCh37 |
NC_000008.9:g.65699551T>G | NCBI36 |
NG_008338.1:g.179352A>C | |
NG_008338.2:g.179352A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000310193.4:c.222A>C MANE Select | ENSP00000310721.3:p.Gln74His | |
ENST00000310193.3:c.222A>C | ENSP00000310721.3:p.Gln74His | |
NM_004820.3:c.222A>C | NP_004811.1:p.Gln74His | |
NM_001324112.1:c.222A>C | NP_001311041.1:p.Gln74His | |
NM_004820.4:c.222A>C | NP_004811.1:p.Gln74His | |
XM_017014002.1:c.288A>C | XP_016869491.1:p.Gln96His | |
NM_004820.5:c.222A>C MANE Select | NP_004811.1:p.Gln74His | |
NM_001324112.2:c.222A>C | NP_001311041.1:p.Gln74His |