HGVS | Genome Assembly |
---|---|
NC_000010.11:g.44370474G>A , CM000672.2:g.44370474G>A | GRCh38 |
NC_000010.10:g.44865922G>A , CM000672.1:g.44865922G>A | GRCh37 |
NC_000010.9:g.44185928G>A | NCBI36 |
NG_016861.1:g.19624C>T | |
NG_016861.2:g.19624C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000374429.6:c.*2854C>T | ENSP00000363551.2:n.*2854C>T | |
NM_000609.6:c.*2854C>T | NP_000600.1:n.*2854C>T | |
NM_001277990.1:c.*2414C>T | NP_001264919.1:n.*2414C>T | |
XR_001747171.1:n.331+8163C>T | ||
XR_001747172.1:n.331+8163C>T | ||
XR_001747173.1:n.331+8163C>T | ||
XR_001747174.1:n.331+8163C>T | ||
NM_000609.7:c.*2854C>T | NP_000600.1:n.*2854C>T | |
NM_001277990.2:c.*2414C>T | NP_001264919.1:n.*2414C>T |