HGVS | Genome Assembly |
---|---|
NC_000005.10:g.140114675G>T , CM000667.2:g.140114675G>T | GRCh38 |
NC_000005.9:g.139494260G>T , CM000667.1:g.139494260G>T | GRCh37 |
NC_000005.8:g.139474444G>T | NCBI36 |
NG_041813.1:g.5553G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331327.5:c.494G>T MANE Select | ENSP00000332706.3:p.Gly165Val | |
ENST00000651386.1:c.494G>T | ENSP00000499133.1:p.Gly165Val | |
ENST00000331327.4:c.494G>T | ENSP00000332706.3:p.Gly165Val | |
NM_005859.4:c.494G>T | NP_005850.1:p.Gly165Val | |
NM_005859.5:c.494G>T MANE Select | NP_005850.1:p.Gly165Val |