HGVS | Genome Assembly |
---|---|
NC_000001.11:g.45500333A>G , CM000663.2:g.45500333A>G | GRCh38 |
NC_000001.10:g.45966005A>G , CM000663.1:g.45966005A>G | GRCh37 |
NC_000001.9:g.45738592A>G | NCBI36 |
NG_013378.1:g.5150A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000401061.9:c.1A>G MANE Select | ENSP00000383840.4:p.Met1Val | |
ENST00000401061.8:c.1A>G | ENSP00000383840.4:p.Met1Val | |
NM_015506.2:c.1A>G | NP_056321.2:p.Met1Val | |
XM_005270724.3:c.1A>G | XP_005270781.1:p.Met1Val | |
XM_011541204.1:c.-222A>G | XP_011539506.1:n.-222A>G | |
NM_001330540.1:c.-222A>G | NP_001317469.1:n.-222A>G | |
XM_005270724.5:c.1A>G | XP_005270781.1:p.Met1Val | |
NM_015506.3:c.1A>G MANE Select | NP_056321.2:p.Met1Val | |
NM_001330540.2:c.-222A>G | NP_001317469.1:n.-222A>G |