HGVS | Genome Assembly |
---|---|
NC_000010.11:g.44370548G>T , CM000672.2:g.44370548G>T | GRCh38 |
NC_000010.10:g.44865996G>T , CM000672.1:g.44865996G>T | GRCh37 |
NC_000010.9:g.44186002G>T | NCBI36 |
NG_016861.1:g.19550C>A | |
NG_016861.2:g.19550C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374429.6:c.*2780C>A | ENSP00000363551.2:n.*2780C>A | |
NM_000609.6:c.*2780C>A | NP_000600.1:n.*2780C>A | |
NM_001277990.1:c.*2340C>A | NP_001264919.1:n.*2340C>A | |
XR_001747171.1:n.331+8089C>A | ||
XR_001747172.1:n.331+8089C>A | ||
XR_001747173.1:n.331+8089C>A | ||
XR_001747174.1:n.331+8089C>A | ||
NM_000609.7:c.*2780C>A | NP_000600.1:n.*2780C>A | |
NM_001277990.2:c.*2340C>A | NP_001264919.1:n.*2340C>A |