HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17023841C>A , CM000663.2:g.17023841C>A | GRCh38 |
NC_000001.10:g.17350336C>A , CM000663.1:g.17350336C>A | GRCh37 |
NC_000001.9:g.17222923C>A | NCBI36 |
NG_012340.1:g.35330G>T , LRG_316:g.35330G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000463045.3:c.471+132G>T | ENSP00000481376.2:n.471+132G>T | |
ENST00000491274.6:c.600+132G>T | ENSP00000480482.2:n.600+132G>T | |
ENST00000375499.8:c.642+132G>T MANE Select | ENSP00000364649.3:n.642+132G>T | |
ENST00000375499.7:c.642+132G>T | ENSP00000364649.3:n.642+132G>T | |
ENST00000485515.5:n.576+132G>T | ||
NM_003000.2:c.642+132G>T , LRG_316t1:c.642+132G>T | NP_002991.2:n.642+132G>T | |
NM_003000.3:c.642+132G>T MANE Select | NP_002991.2:n.642+132G>T |