HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17022131A>C , CM000663.2:g.17022131A>C | GRCh38 |
NC_000001.10:g.17348626A>C , CM000663.1:g.17348626A>C | GRCh37 |
NC_000001.9:g.17221213A>C | NCBI36 |
NG_012340.1:g.37040T>G , LRG_316:g.37040T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000463045.3:c.594+477T>G | ENSP00000481376.2:n.594+477T>G | |
ENST00000491274.6:c.723+477T>G | ENSP00000480482.2:n.723+477T>G | |
ENST00000375499.8:c.765+477T>G MANE Select | ENSP00000364649.3:n.765+477T>G | |
ENST00000375499.7:c.765+477T>G | ENSP00000364649.3:n.765+477T>G | |
ENST00000475049.5:n.190+477T>G | ||
ENST00000485092.5:n.429+477T>G | ||
NM_003000.2:c.765+477T>G , LRG_316t1:c.765+477T>G | NP_002991.2:n.765+477T>G | |
NM_003000.3:c.765+477T>G MANE Select | NP_002991.2:n.765+477T>G |