HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57764486A>G , CM000674.2:g.57764486A>G | GRCh38 |
NC_000012.11:g.58158269A>G , CM000674.1:g.58158269A>G | GRCh37 |
NC_000012.10:g.56444536A>G | NCBI36 |
NG_007076.1:g.7708T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1109T>C | ENSP00000518840.1:p.Leu370Pro | |
ENST00000713545.1:c.*33T>C | ENSP00000518841.1:n.*33T>C | |
ENST00000228606.9:c.1028T>C MANE Select | ENSP00000228606.4:p.Leu343Pro | |
ENST00000228606.8:c.1028T>C | ENSP00000228606.4:p.Leu343Pro | |
ENST00000546567.5:c.323T>C | ENSP00000449472.1:p.Leu108Pro | |
ENST00000547344.5:n.1167T>C | ||
NM_000785.3:c.1028T>C | NP_000776.1:p.Leu343Pro | |
NM_000785.4:c.1028T>C MANE Select | NP_000776.1:p.Leu343Pro |