gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.111150114T>A , CM000664.2:g.111150114T>A | GRCh38 |
| NC_000002.11:g.111907691T>A , CM000664.1:g.111907691T>A | GRCh37 |
| NC_000002.10:g.111624162T>A | NCBI36 |
| NG_029006.1:g.34201T>A , LRG_620:g.34201T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393252.4:c.747T>A | ENSP00000376941.4:p.Ile249= | |
| ENST00000433098.6:c.528T>A | ENSP00000401662.2:p.Ile176= | |
| ENST00000393256.8:c.465T>A MANE Select | ENSP00000376943.2:p.Ile155= | |
| ENST00000308659.12:c.285T>A | ENSP00000309226.8:p.Ile95= | |
| ENST00000361493.10:c.311T>A | ENSP00000354879.6:n.311T>A | |
| ENST00000393256.7:c.465T>A | ENSP00000376943.2:p.Ile155= | |
| ENST00000415458.5:c.215-3666T>A | ENSP00000393781.1:n.215-3666T>A | |
| ENST00000431217.1:c.498T>A | ENSP00000394640.1:n.498T>A | |
| ENST00000433098.5:c.285T>A | ENSP00000401662.1:p.Ile95= | |
| ENST00000436733.5:c.395-3666T>A | ENSP00000403727.1:n.395-3666T>A | |
| ENST00000437029.5:c.465T>A | ENSP00000412892.1:p.Ile155= | |
| ENST00000439718.1:c.195T>A | ENSP00000411137.1:p.Ile65= | |
| ENST00000452231.5:c.195T>A | ENSP00000391292.1:p.Ile65= | |
| ENST00000610735.4:c.395-3666T>A | ENSP00000481030.1:n.395-3666T>A | |
| ENST00000615946.4:c.195T>A | ENSP00000481423.1:p.Ile65= | |
| ENST00000619294.4:c.*90T>A | ENSP00000479714.1:n.*90T>A | |
| ENST00000620862.4:c.285T>A | ENSP00000478133.1:p.Ile95= | |
| ENST00000621302.4:c.465T>A | ENSP00000481652.1:p.Ile155= | |
| ENST00000622509.4:c.465T>A | ENSP00000482175.1:p.Ile155= | |
| ENST00000622612.4:c.395-14019T>A | ENSP00000484360.1:n.395-14019T>A | |
| NM_001204106.1:c.195T>A | NP_001191035.1:p.Ile65= | |
| NM_001204107.1:c.195T>A , LRG_620t1:c.195T>A | NP_001191036.1:p.Ile65= | |
| NM_001204108.1:c.465T>A , LRG_620t2:c.465T>A | NP_001191037.1:p.Ile155= | |
| NM_001204109.1:c.395-3666T>A | NP_001191038.1:n.395-3666T>A | |
| NM_001204110.1:c.195T>A | NP_001191039.1:p.Ile65= | |
| NM_001204111.1:c.215-14019T>A | NP_001191040.1:n.215-14019T>A | |
| NM_001204112.1:c.215-3666T>A | NP_001191041.1:n.215-3666T>A | |
| NM_006538.4:c.285T>A | NP_006529.1:p.Ile95= | |
| NM_138621.4:c.465T>A | NP_619527.1:p.Ile155= | |
| NM_138622.3:c.465T>A | NP_619528.1:p.Ile155= | |
| NM_138623.3:c.285T>A | NP_619529.1:p.Ile95= | |
| NM_138624.3:c.*90T>A | NP_619530.1:n.*90T>A | |
| NM_138625.3:c.*83T>A , LRG_620t4:c.*83T>A | NP_619531.1:n.*83T>A | |
| NM_138626.3:c.395-14019T>A | NP_619532.1:n.395-14019T>A | |
| NM_138627.3:c.125-14019T>A | NP_619533.1:n.125-14019T>A | |
| NM_207003.2:c.195T>A | NP_996886.1:p.Ile65= | |
| XM_005263550.2:c.747T>A | XP_005263607.1:p.Ile249= | |
| XM_005263551.1:c.747T>A | XP_005263608.1:p.Ile249= | |
| XM_005263552.2:c.567T>A | XP_005263609.1:p.Ile189= | |
| XM_005263553.1:c.567T>A | XP_005263610.1:p.Ile189= | |
| XM_005263554.1:c.677-14019T>A | XP_005263611.1:n.677-14019T>A | |
| XM_005263555.2:c.477T>A | XP_005263612.1:p.Ile159= | |
| XM_005263556.2:c.465T>A | XP_005263613.1:p.Ile155= | |
| XM_005263557.3:c.465T>A | XP_005263614.1:p.Ile155= | |
| XM_005263559.1:c.477T>A | XP_005263616.1:p.Ile159= | |
| XM_005263561.2:c.285T>A | XP_005263618.1:p.Ile95= | |
| XM_011510463.1:c.516T>A | XP_011508765.1:p.Ile172= | |
| XR_244801.1:n.806T>A | ||
| XR_244802.2:n.806T>A | ||
| XR_922828.1:n.806T>A | ||
| XR_922829.1:n.806T>A | ||
| XR_922830.1:n.736-3666T>A | ||
| XM_005263550.4:c.747T>A | XP_005263607.1:p.Ile249= | |
| XM_005263551.3:c.747T>A | XP_005263608.1:p.Ile249= | |
| XM_005263552.4:c.567T>A | XP_005263609.1:p.Ile189= | |
| XM_005263553.3:c.567T>A | XP_005263610.1:p.Ile189= | |
| XM_005263554.3:c.677-14019T>A | XP_005263611.1:n.677-14019T>A | |
| XM_005263555.4:c.477T>A | XP_005263612.1:p.Ile159= | |
| XM_005263556.3:c.465T>A | XP_005263613.1:p.Ile155= | |
| XM_005263557.4:c.465T>A | XP_005263614.1:p.Ile155= | |
| XM_005263559.3:c.477T>A | XP_005263616.1:p.Ile159= | |
| XM_005263561.3:c.285T>A | XP_005263618.1:p.Ile95= | |
| XM_017003101.2:c.497-14019T>A | XP_016858590.1:n.497-14019T>A | |
| XM_017003102.1:c.195T>A | XP_016858591.1:p.Ile65= | |
| XR_001738579.2:n.840T>A | ||
| XR_001738580.2:n.627T>A | ||
| XR_002958776.1:n.644T>A | ||
| XR_244801.3:n.807T>A | ||
| XR_922828.3:n.807T>A | ||
| XR_922829.3:n.807T>A | ||
| NM_138621.5:c.465T>A MANE Select | NP_619527.1:p.Ile155= | |
| NM_001204106.2:c.195T>A | NP_001191035.1:p.Ile65= | |
| NM_001204110.2:c.195T>A | NP_001191039.1:p.Ile65= | |
| NM_001204111.2:c.215-14019T>A | NP_001191040.1:n.215-14019T>A | |
| NM_001204112.2:c.215-3666T>A | NP_001191041.1:n.215-3666T>A | |
| NM_006538.5:c.285T>A | NP_006529.1:p.Ile95= | |
| NM_138625.4:c.*83T>A | NP_619531.1:n.*83T>A | |
| NM_138627.4:c.125-14019T>A | NP_619533.1:n.125-14019T>A | |
| NM_207003.3:c.195T>A | NP_996886.1:p.Ile65= | |
| NM_001204109.2:c.395-3666T>A | NP_001191038.1:n.395-3666T>A | |
| NM_138622.4:c.465T>A | NP_619528.1:p.Ile155= | |
| NM_138623.4:c.285T>A | NP_619529.1:p.Ile95= | |
| NM_138624.4:c.*90T>A | NP_619530.1:n.*90T>A | |
| NM_138626.4:c.395-14019T>A | NP_619532.1:n.395-14019T>A |