HGVS | Genome Assembly |
---|---|
NC_000018.10:g.31531204G>T , CM000680.2:g.31531204G>T | GRCh38 |
NC_000018.9:g.29111167G>T , CM000680.1:g.29111167G>T | GRCh37 |
NC_000018.8:g.27365165G>T | NCBI36 |
NG_007072.3:g.37963G>T , LRG_397:g.37963G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000683614.2:n.1063G>T | ||
ENST00000683614.1:c.1063G>T | ||
ENST00000261590.13:c.1232G>T MANE Select | ENSP00000261590.8:p.Gly411Val | |
ENST00000261590.12:c.1232G>T | ENSP00000261590.8:p.Gly411Val | |
NM_001943.3:c.1232G>T , LRG_397t1:c.1232G>T | NP_001934.2:p.Gly411Val | |
NM_001943.4:c.1232G>T | NP_001934.2:p.Gly411Val | |
XM_024451095.1:c.698G>T | XP_024306863.1:p.Gly233Val | |
NM_001943.5:c.1232G>T MANE Select | NP_001934.2:p.Gly411Val |