HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57764656A>G , CM000674.2:g.57764656A>G | GRCh38 |
NC_000012.11:g.58158439A>G , CM000674.1:g.58158439A>G | GRCh37 |
NC_000012.10:g.56444706A>G | NCBI36 |
NG_007076.1:g.7538T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1044+98T>C | ENSP00000518840.1:n.1044+98T>C | |
ENST00000713545.1:c.1021+98T>C | ENSP00000518841.1:n.1021+98T>C | |
ENST00000228606.9:c.963+98T>C MANE Select | ENSP00000228606.4:n.963+98T>C | |
ENST00000228606.8:c.963+98T>C | ENSP00000228606.4:n.963+98T>C | |
ENST00000546567.5:c.258+98T>C | ENSP00000449472.1:n.258+98T>C | |
ENST00000547344.5:n.1102+98T>C | ||
ENST00000547451.1:n.861T>C | ||
NM_000785.3:c.963+98T>C | NP_000776.1:n.963+98T>C | |
NM_000785.4:c.963+98T>C MANE Select | NP_000776.1:n.963+98T>C |