HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17022643G>C , CM000663.2:g.17022643G>C | GRCh38 |
NC_000001.10:g.17349138G>C , CM000663.1:g.17349138G>C | GRCh37 |
NC_000001.9:g.17221725G>C | NCBI36 |
NG_012340.1:g.36528C>G , LRG_316:g.36528C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000463045.3:c.559C>G | ENSP00000481376.2:p.His187Asp | |
ENST00000491274.6:c.688C>G | ENSP00000480482.2:p.His230Asp | |
ENST00000375499.8:c.730C>G MANE Select | ENSP00000364649.3:p.His244Asp | |
ENST00000375499.7:c.730C>G | ENSP00000364649.3:p.His244Asp | |
ENST00000475049.5:n.155C>G | ||
ENST00000485092.5:n.394C>G | ||
ENST00000485515.5:n.664C>G | ||
NM_003000.2:c.730C>G , LRG_316t1:c.730C>G | NP_002991.2:p.His244Asp | |
NM_003000.3:c.730C>G MANE Select | NP_002991.2:p.His244Asp |