HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17028599C>T , CM000663.2:g.17028599C>T | GRCh38 |
NC_000001.10:g.17355094C>T , CM000663.1:g.17355094C>T | GRCh37 |
NC_000001.9:g.17227681C>T | NCBI36 |
NG_012340.1:g.30572G>A , LRG_316:g.30572G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000463045.3:c.252+1G>A | ENSP00000481376.2:n.252+1G>A | |
ENST00000491274.6:c.381+1G>A | ENSP00000480482.2:n.381+1G>A | |
ENST00000375499.8:c.423+1G>A MANE Select | ENSP00000364649.3:n.423+1G>A | |
ENST00000375499.7:c.423+1G>A | ENSP00000364649.3:n.423+1G>A | |
ENST00000463045.2:c.252+1G>A | ENSP00000481376.1:n.252+1G>A | |
ENST00000475506.1:n.340+1G>A | ||
ENST00000485515.5:n.357+55G>A | ||
ENST00000491274.5:c.381+1G>A | ENSP00000480482.1:n.381+1G>A | |
NM_003000.2:c.423+1G>A , LRG_316t1:c.423+1G>A | NP_002991.2:n.423+1G>A | |
NM_003000.3:c.423+1G>A MANE Select | NP_002991.2:n.423+1G>A |