HGVS | Genome Assembly |
---|---|
NC_000007.14:g.107710119T>A , CM000669.2:g.107710119T>A | GRCh38 |
NC_000007.13:g.107350564T>A , CM000669.1:g.107350564T>A | GRCh37 |
NC_000007.12:g.107137800T>A | NCBI36 |
NG_008489.1:g.54485T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644269.2:c.2155T>A MANE Select | ENSP00000494017.1:p.Phe719Ile | |
ENST00000644846.1:c.811T>A | ||
ENST00000265715.7:c.2155T>A | ENSP00000265715.3:p.Phe719Ile | |
ENST00000492030.2:n.377-36T>A | ||
NM_000441.1:c.2155T>A | NP_000432.1:p.Phe719Ile | |
XM_005250425.1:c.2155T>A | XP_005250482.1:p.Phe719Ile | |
XM_005250425.2:c.2155T>A | XP_005250482.1:p.Phe719Ile | |
XM_017012318.1:c.2077T>A | XP_016867807.1:p.Phe693Ile | |
NM_000441.2:c.2155T>A MANE Select | NP_000432.1:p.Phe719Ile |