HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17022641G>C , CM000663.2:g.17022641G>C | GRCh38 |
NC_000001.10:g.17349136G>C , CM000663.1:g.17349136G>C | GRCh37 |
NC_000001.9:g.17221723G>C | NCBI36 |
NG_012340.1:g.36530C>G , LRG_316:g.36530C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000463045.3:c.561C>G | ENSP00000481376.2:p.His187Gln | |
ENST00000491274.6:c.690C>G | ENSP00000480482.2:p.His230Gln | |
ENST00000375499.8:c.732C>G MANE Select | ENSP00000364649.3:p.His244Gln | |
ENST00000375499.7:c.732C>G | ENSP00000364649.3:p.His244Gln | |
ENST00000475049.5:n.157C>G | ||
ENST00000485092.5:n.396C>G | ||
ENST00000485515.5:n.666C>G | ||
NM_003000.2:c.732C>G , LRG_316t1:c.732C>G | NP_002991.2:p.His244Gln | |
NM_003000.3:c.732C>G MANE Select | NP_002991.2:p.His244Gln |