HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57764166C>G , CM000674.2:g.57764166C>G | GRCh38 |
NC_000012.11:g.58157949C>G , CM000674.1:g.58157949C>G | GRCh37 |
NC_000012.10:g.56444216C>G | NCBI36 |
NG_007076.1:g.8028G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1228G>C | ENSP00000518840.1:p.Val410Leu | |
ENST00000713545.1:c.*152G>C | ENSP00000518841.1:n.*152G>C | |
ENST00000228606.9:c.1147G>C MANE Select | ENSP00000228606.4:p.Val383Leu | |
ENST00000228606.8:c.1147G>C | ENSP00000228606.4:p.Val383Leu | |
ENST00000546567.5:c.442G>C | ENSP00000449472.1:p.Val148Leu | |
ENST00000547344.5:n.1286G>C | ||
NM_000785.3:c.1147G>C | NP_000776.1:p.Val383Leu | |
NM_000785.4:c.1147G>C MANE Select | NP_000776.1:p.Val383Leu |