HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57764407C>G , CM000674.2:g.57764407C>G | GRCh38 |
NC_000012.11:g.58158190C>G , CM000674.1:g.58158190C>G | GRCh37 |
NC_000012.10:g.56444457C>G | NCBI36 |
NG_007076.1:g.7787G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1188G>C | ENSP00000518840.1:p.Leu396= | |
ENST00000713545.1:c.*112G>C | ENSP00000518841.1:n.*112G>C | |
ENST00000228606.9:c.1107G>C MANE Select | ENSP00000228606.4:p.Leu369= | |
ENST00000228606.8:c.1107G>C | ENSP00000228606.4:p.Leu369= | |
ENST00000546567.5:c.402G>C | ENSP00000449472.1:p.Leu134= | |
ENST00000547344.5:n.1246G>C | ||
NM_000785.3:c.1107G>C | NP_000776.1:p.Leu369= | |
NM_000785.4:c.1107G>C MANE Select | NP_000776.1:p.Leu369= |