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