HGVS | Genome Assembly |
---|---|
NC_000010.11:g.44370387T>G , CM000672.2:g.44370387T>G | GRCh38 |
NC_000010.10:g.44865835T>G , CM000672.1:g.44865835T>G | GRCh37 |
NC_000010.9:g.44185841T>G | NCBI36 |
NG_016861.1:g.19711A>C | |
NG_016861.2:g.19711A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374429.6:c.*2941A>C | ENSP00000363551.2:n.*2941A>C | |
NM_000609.6:c.*2941A>C | NP_000600.1:n.*2941A>C | |
NM_001277990.1:c.*2501A>C | NP_001264919.1:n.*2501A>C | |
XR_001747171.1:n.331+8250A>C | ||
XR_001747172.1:n.331+8250A>C | ||
XR_001747173.1:n.331+8250A>C | ||
XR_001747174.1:n.331+8250A>C | ||
NM_000609.7:c.*2941A>C | NP_000600.1:n.*2941A>C | |
NM_001277990.2:c.*2501A>C | NP_001264919.1:n.*2501A>C |