HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17022135C>A , CM000663.2:g.17022135C>A | GRCh38 |
NC_000001.10:g.17348630C>A , CM000663.1:g.17348630C>A | GRCh37 |
NC_000001.9:g.17221217C>A | NCBI36 |
NG_012340.1:g.37036G>T , LRG_316:g.37036G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000463045.3:c.594+473G>T | ENSP00000481376.2:n.594+473G>T | |
ENST00000491274.6:c.723+473G>T | ENSP00000480482.2:n.723+473G>T | |
ENST00000375499.8:c.765+473G>T MANE Select | ENSP00000364649.3:n.765+473G>T | |
ENST00000375499.7:c.765+473G>T | ENSP00000364649.3:n.765+473G>T | |
ENST00000475049.5:n.190+473G>T | ||
ENST00000485092.5:n.429+473G>T | ||
NM_003000.2:c.765+473G>T , LRG_316t1:c.765+473G>T | NP_002991.2:n.765+473G>T | |
NM_003000.3:c.765+473G>T MANE Select | NP_002991.2:n.765+473G>T |