HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57766053T>G , CM000674.2:g.57766053T>G | GRCh38 |
NC_000012.11:g.58159836T>G , CM000674.1:g.58159836T>G | GRCh37 |
NC_000012.10:g.56446103T>G | NCBI36 |
NG_007076.1:g.6141A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000546609.2:n.252A>C | ||
ENST00000713544.1:c.340A>C | ENSP00000518840.1:p.Thr114Pro | |
ENST00000713545.1:c.340A>C | ENSP00000518841.1:p.Thr114Pro | |
ENST00000228606.9:c.340A>C MANE Select | ENSP00000228606.4:p.Thr114Pro | |
ENST00000228606.8:c.340A>C | ENSP00000228606.4:p.Thr114Pro | |
ENST00000546496.1:n.168A>C | ||
ENST00000546609.1:c.252A>C | ||
ENST00000547344.5:n.394A>C | ||
ENST00000552186.1:n.459A>C | ||
NM_000785.3:c.340A>C | NP_000776.1:p.Thr114Pro | |
NM_000785.4:c.340A>C MANE Select | NP_000776.1:p.Thr114Pro |