HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57764502C>G , CM000674.2:g.57764502C>G | GRCh38 |
NC_000012.11:g.58158285C>G , CM000674.1:g.58158285C>G | GRCh37 |
NC_000012.10:g.56444552C>G | NCBI36 |
NG_007076.1:g.7692G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1093G>C | ENSP00000518840.1:p.Glu365Gln | |
ENST00000713545.1:c.*17G>C | ENSP00000518841.1:n.*17G>C | |
ENST00000228606.9:c.1012G>C MANE Select | ENSP00000228606.4:p.Glu338Gln | |
ENST00000228606.8:c.1012G>C | ENSP00000228606.4:p.Glu338Gln | |
ENST00000546567.5:c.307G>C | ENSP00000449472.1:p.Glu103Gln | |
ENST00000547344.5:n.1151G>C | ||
NM_000785.3:c.1012G>C | NP_000776.1:p.Glu338Gln | |
NM_000785.4:c.1012G>C MANE Select | NP_000776.1:p.Glu338Gln |