HGVS | Genome Assembly |
---|---|
NC_000003.12:g.158644637G>A , CM000665.2:g.158644637G>A | GRCh38 |
NC_000003.11:g.158362426G>A , CM000665.1:g.158362426G>A | GRCh37 |
NC_000003.10:g.159845120G>A | NCBI36 |
NG_008441.1:g.5110G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000486715.6:c.3G>A MANE Select | ENSP00000419038.1:p.Met1Ile | |
ENST00000264263.9:c.3G>A | ENSP00000264263.5:p.Met1Ile | |
ENST00000478254.5:c.3G>A | ENSP00000417225.1:p.Met1Ile | |
ENST00000478576.5:c.3G>A | ENSP00000418755.1:p.Met1Ile | |
ENST00000486715.5:c.3G>A | ENSP00000419038.1:p.Met1Ile | |
NM_001308164.1:c.3G>A | NP_001295093.1:p.Met1Ile | |
NM_001308166.1:c.3G>A | NP_001295095.1:p.Met1Ile | |
NM_024996.5:c.3G>A | NP_079272.4:p.Met1Ile | |
XM_006713795.1:c.3G>A | XP_006713858.1:p.Met1Ile | |
XM_006713795.2:c.3G>A | XP_006713858.1:p.Met1Ile | |
NM_001374355.1:c.3G>A | NP_001361284.1:p.Met1Ile | |
NM_001374356.1:c.3G>A | NP_001361285.1:p.Met1Ile | |
NM_001374357.1:c.-389G>A | NP_001361286.1:n.-389G>A | |
NM_001374358.1:c.3G>A | NP_001361287.1:p.Met1Ile | |
NM_001374359.1:c.-227G>A | NP_001361288.1:n.-227G>A | |
NM_001374360.1:c.-227G>A | NP_001361289.1:n.-227G>A | |
NM_001374361.1:c.-227G>A | NP_001361290.1:n.-227G>A | |
NM_024996.7:c.3G>A MANE Select | NP_079272.4:p.Met1Ile | |
NR_164499.1:n.111G>A | ||
NR_164500.1:n.111G>A | ||
NR_164501.1:n.111G>A | ||
NR_164502.1:n.111G>A | ||
NM_001308164.2:c.3G>A | NP_001295093.1:p.Met1Ile | |
NM_001308166.2:c.3G>A | NP_001295095.1:p.Met1Ile |