HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17022187A>G , CM000663.2:g.17022187A>G | GRCh38 |
NC_000001.10:g.17348682A>G , CM000663.1:g.17348682A>G | GRCh37 |
NC_000001.9:g.17221269A>G | NCBI36 |
NG_012340.1:g.36984T>C , LRG_316:g.36984T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000463045.3:c.594+421T>C | ENSP00000481376.2:n.594+421T>C | |
ENST00000491274.6:c.723+421T>C | ENSP00000480482.2:n.723+421T>C | |
ENST00000375499.8:c.765+421T>C MANE Select | ENSP00000364649.3:n.765+421T>C | |
ENST00000375499.7:c.765+421T>C | ENSP00000364649.3:n.765+421T>C | |
ENST00000475049.5:n.190+421T>C | ||
ENST00000485092.5:n.429+421T>C | ||
NM_003000.2:c.765+421T>C , LRG_316t1:c.765+421T>C | NP_002991.2:n.765+421T>C | |
NM_003000.3:c.765+421T>C MANE Select | NP_002991.2:n.765+421T>C |