HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57764422C>G , CM000674.2:g.57764422C>G | GRCh38 |
NC_000012.11:g.58158205C>G , CM000674.1:g.58158205C>G | GRCh37 |
NC_000012.10:g.56444472C>G | NCBI36 |
NG_007076.1:g.7772G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1173G>C | ENSP00000518840.1:p.Leu391= | |
ENST00000713545.1:c.*97G>C | ENSP00000518841.1:n.*97G>C | |
ENST00000228606.9:c.1092G>C MANE Select | ENSP00000228606.4:p.Leu364= | |
ENST00000228606.8:c.1092G>C | ENSP00000228606.4:p.Leu364= | |
ENST00000546567.5:c.387G>C | ENSP00000449472.1:p.Leu129= | |
ENST00000547344.5:n.1231G>C | ||
NM_000785.3:c.1092G>C | NP_000776.1:p.Leu364= | |
NM_000785.4:c.1092G>C MANE Select | NP_000776.1:p.Leu364= |