HGVS | Genome Assembly |
---|---|
NC_000013.11:g.40644090A>G , CM000675.2:g.40644090A>G | GRCh38 |
NC_000013.10:g.41218227A>G , CM000675.1:g.41218227A>G | GRCh37 |
NC_000013.9:g.40116227A>G | NCBI36 |
NG_023244.1:g.27508T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000379561.6:c.630+21493T>C MANE Select | ENSP00000368880.4:n.630+21493T>C | |
ENST00000655267.1:n.333+21493T>C | ||
ENST00000660760.1:n.296-10842T>C | ||
ENST00000379561.5:c.630+21493T>C | ENSP00000368880.4:n.630+21493T>C | |
NM_002015.3:c.630+21493T>C | NP_002006.2:n.630+21493T>C | |
XR_941536.1:n.1226+1249T>C | ||
NM_002015.4:c.630+21493T>C MANE Select | NP_002006.2:n.630+21493T>C |