HGVS | Genome Assembly |
---|---|
NC_000019.10:g.35848537A>G , CM000681.2:g.35848537A>G | GRCh38 |
NC_000019.9:g.36339439A>G , CM000681.1:g.36339439A>G | GRCh37 |
NC_000019.8:g.41031279A>G | NCBI36 |
NG_013356.2:g.25751T>C , LRG_693:g.25751T>C | |
NG_051206.1:g.1903A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378910.10:c.1170+100T>C MANE Select | ENSP00000368190.4:n.1170+100T>C | |
ENST00000353632.6:c.1170+100T>C | ENSP00000343634.5:n.1170+100T>C | |
ENST00000378910.9:c.1170+100T>C | ENSP00000368190.4:n.1170+100T>C | |
ENST00000592132.1:n.177+100T>C | ||
NM_004646.3:c.1170+100T>C , LRG_693t1:c.1170+100T>C | NP_004637.1:n.1170+100T>C | |
NM_004646.4:c.1170+100T>C MANE Select | NP_004637.1:n.1170+100T>C |