HGVS | Genome Assembly |
---|---|
NC_000011.10:g.64747581G>A , CM000673.2:g.64747581G>A | GRCh38 |
NC_000011.9:g.64515053G>A , CM000673.1:g.64515053G>A | GRCh37 |
NC_000011.8:g.64271629G>A | NCBI36 |
NG_007574.1:g.2876C>T , LRG_100:g.2876C>T | |
NG_013018.1:g.18135C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000164139.4:c.2178-223C>T MANE Select | ENSP00000164139.3:n.2178-223C>T | |
ENST00000164139.3:c.2178-223C>T | ENSP00000164139.3:n.2178-223C>T | |
ENST00000377432.7:c.1914-223C>T | ENSP00000366650.3:n.1914-223C>T | |
ENST00000483742.1:n.1308C>T | ||
NM_001164716.1:c.1914-223C>T | NP_001158188.1:n.1914-223C>T | |
NM_005609.2:c.2178-223C>T | NP_005600.1:n.2178-223C>T | |
NM_005609.3:c.2178-223C>T | NP_005600.1:n.2178-223C>T | |
NM_005609.4:c.2178-223C>T MANE Select | NP_005600.1:n.2178-223C>T |