HGVS | Genome Assembly |
---|---|
NC_000016.10:g.89179472C>A , CM000678.2:g.89179472C>A | GRCh38 |
NC_000016.9:g.89245880C>A , CM000678.1:g.89245880C>A | GRCh37 |
NC_000016.8:g.87773381C>A | NCBI36 |
NG_012055.1:g.12718C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000289746.3:c.99C>A MANE Select | ENSP00000289746.2:p.Pro33= | |
ENST00000289746.2:c.99C>A | ENSP00000289746.2:p.Pro33= | |
ENST00000521087.5:n.164C>A | ||
ENST00000524089.1:n.164C>A | ||
NM_004933.2:c.99C>A | NP_004924.1:p.Pro33= | |
XM_011522806.1:c.99C>A | XP_011521108.1:p.Pro33= | |
NM_004933.3:c.99C>A MANE Select | NP_004924.1:p.Pro33= |