HGVS | Genome Assembly |
---|---|
NC_000007.14:g.107701866T>A , CM000669.2:g.107701866T>A | GRCh38 |
NC_000007.13:g.107342311T>A , CM000669.1:g.107342311T>A | GRCh37 |
NC_000007.12:g.107129547T>A | NCBI36 |
NG_008489.1:g.46232T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644269.2:c.1843T>A MANE Select | ENSP00000494017.1:p.Phe615Ile | |
ENST00000644846.1:c.554T>A | ||
ENST00000265715.7:c.1843T>A | ENSP00000265715.3:p.Phe615Ile | |
ENST00000480841.5:n.692T>A | ||
ENST00000492030.2:n.130T>A | ||
NM_000441.1:c.1843T>A | NP_000432.1:p.Phe615Ile | |
XM_005250425.1:c.1843T>A | XP_005250482.1:p.Phe615Ile | |
XM_005250425.2:c.1843T>A | XP_005250482.1:p.Phe615Ile | |
XM_017012318.1:c.1765T>A | XP_016867807.1:p.Phe589Ile | |
NM_000441.2:c.1843T>A MANE Select | NP_000432.1:p.Phe615Ile |