HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17023924T>C , CM000663.2:g.17023924T>C | GRCh38 |
NC_000001.10:g.17350419T>C , CM000663.1:g.17350419T>C | GRCh37 |
NC_000001.9:g.17223006T>C | NCBI36 |
NG_012340.1:g.35247A>G , LRG_316:g.35247A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000463045.3:c.471+49A>G | ENSP00000481376.2:n.471+49A>G | |
ENST00000491274.6:c.600+49A>G | ENSP00000480482.2:n.600+49A>G | |
ENST00000375499.8:c.642+49A>G MANE Select | ENSP00000364649.3:n.642+49A>G | |
ENST00000375499.7:c.642+49A>G | ENSP00000364649.3:n.642+49A>G | |
ENST00000485515.5:n.576+49A>G | ||
NM_003000.2:c.642+49A>G , LRG_316t1:c.642+49A>G | NP_002991.2:n.642+49A>G | |
NM_003000.3:c.642+49A>G MANE Select | NP_002991.2:n.642+49A>G |