HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1394316C>A , CM000667.2:g.1394316C>A | GRCh38 |
NC_000005.9:g.1394431C>A , CM000667.1:g.1394431C>A | GRCh37 |
NC_000005.8:g.1447431C>A | NCBI36 |
NG_015885.1:g.56113G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000270349.12:c.*419G>T MANE Select | ENSP00000270349.9:n.*419G>T | |
ENST00000270349.11:c.*419G>T | ENSP00000270349.9:n.*419G>T | |
ENST00000512002.2:n.663G>T | ||
NM_001044.4:c.*419G>T | NP_001035.1:n.*419G>T | |
NM_001044.5:c.*419G>T MANE Select | NP_001035.1:n.*419G>T |