HGVS | Genome Assembly |
---|---|
NC_000019.10:g.35841958C>A , CM000681.2:g.35841958C>A | GRCh38 |
NC_000019.9:g.36332860C>A , CM000681.1:g.36332860C>A | GRCh37 |
NC_000019.8:g.41024700C>A | NCBI36 |
NG_013356.2:g.32330G>T , LRG_693:g.32330G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378910.10:c.2664-92G>T MANE Select | ENSP00000368190.4:n.2664-92G>T | |
ENST00000353632.6:c.2664-92G>T | ENSP00000343634.5:n.2664-92G>T | |
ENST00000378910.9:c.2664-92G>T | ENSP00000368190.4:n.2664-92G>T | |
NM_004646.3:c.2664-92G>T , LRG_693t1:c.2664-92G>T | NP_004637.1:n.2664-92G>T | |
NM_004646.4:c.2664-92G>T MANE Select | NP_004637.1:n.2664-92G>T |