HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57764604G>A , CM000674.2:g.57764604G>A | GRCh38 |
NC_000012.11:g.58158387G>A , CM000674.1:g.58158387G>A | GRCh37 |
NC_000012.10:g.56444654G>A | NCBI36 |
NG_007076.1:g.7590C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1045-54C>T | ENSP00000518840.1:n.1045-54C>T | |
ENST00000713545.1:c.1022-54C>T | ENSP00000518841.1:n.1022-54C>T | |
ENST00000228606.9:c.964-54C>T MANE Select | ENSP00000228606.4:n.964-54C>T | |
ENST00000228606.8:c.964-54C>T | ENSP00000228606.4:n.964-54C>T | |
ENST00000546567.5:c.259-54C>T | ENSP00000449472.1:n.259-54C>T | |
ENST00000547344.5:n.1103-54C>T | ||
ENST00000547451.1:n.913C>T | ||
NM_000785.3:c.964-54C>T | NP_000776.1:n.964-54C>T | |
NM_000785.4:c.964-54C>T MANE Select | NP_000776.1:n.964-54C>T |