HGVS | Genome Assembly |
---|---|
NC_000014.9:g.22843282G>T , CM000676.2:g.22843282G>T | GRCh38 |
NC_000014.8:g.23312491G>T , CM000676.1:g.23312491G>T | GRCh37 |
NC_000014.7:g.22382331G>T | NCBI36 |
NG_046989.1:g.11750G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311852.11:c.714G>T MANE Select | ENSP00000308208.6:p.Val238= | |
ENST00000548162.2:c.714G>T | ENSP00000506068.1:p.Val238= | |
ENST00000680097.1:c.*29G>T | ENSP00000506631.1:n.*29G>T | |
ENST00000680941.1:c.*112G>T | ENSP00000506378.1:n.*112G>T | |
ENST00000311852.10:c.714G>T | ENSP00000308208.6:p.Val238= | |
ENST00000548162.1:n.956G>T | ||
NM_004995.3:c.714G>T | NP_004986.1:p.Val238= | |
NM_004995.4:c.714G>T MANE Select | NP_004986.1:p.Val238= |