HGVS | Genome Assembly |
---|---|
NC_000005.10:g.140114750T>A , CM000667.2:g.140114750T>A | GRCh38 |
NC_000005.9:g.139494335T>A , CM000667.1:g.139494335T>A | GRCh37 |
NC_000005.8:g.139474519T>A | NCBI36 |
NG_041813.1:g.5628T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331327.5:c.569T>A MANE Select | ENSP00000332706.3:p.Leu190Gln | |
ENST00000651386.1:c.569T>A | ENSP00000499133.1:p.Leu190Gln | |
ENST00000331327.4:c.569T>A | ENSP00000332706.3:p.Leu190Gln | |
NM_005859.4:c.569T>A | NP_005850.1:p.Leu190Gln | |
NM_005859.5:c.569T>A MANE Select | NP_005850.1:p.Leu190Gln |