Revel Score:
ENST00000358161
0.023
ENST00000372731
0.023
ENST00000372739 (MANE Select)
0.023
ENST00000372719
0.023
ENST00000372721
0.023
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002254 (AMR)
Exomes Max Group AF
0.00002985 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128625912C>G , CM000671.2:g.128625912C>G | GRCh38 |
| NC_000009.11:g.131388191C>G , CM000671.1:g.131388191C>G | GRCh37 |
| NC_000009.10:g.130428012C>G | NCBI36 |
| NG_027748.1:g.78355C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000627441.3:c.6249C>G | ENSP00000486547.2:p.Ser2083Arg | |
| ENST00000630866.2:c.6213C>G | ENSP00000487444.1:p.Ser2071Arg | |
| ENST00000704202.1:c.6213C>G | ENSP00000515764.1:p.Ser2071Arg | |
| ENST00000704203.1:c.6249C>G | ENSP00000515765.1:p.Ser2083Arg | |
| ENST00000704204.1:c.5676C>G | ENSP00000515766.1:p.Ser1892Arg | |
| ENST00000704206.1:c.3836C>G | ||
| ENST00000704207.1:c.2155C>G | ||
| ENST00000706487.1:c.6213C>G | ENSP00000516412.1:p.Ser2071Arg | |
| ENST00000372739.7:c.6213C>G MANE Select | ENSP00000361824.4:p.Ser2071Arg | |
| ENST00000637032.2:c.1C>G | ||
| ENST00000358161.9:c.6138C>G | ENSP00000350882.6:p.Ser2046Arg | |
| ENST00000372731.8:c.6198C>G | ENSP00000361816.4:p.Ser2066Arg | |
| ENST00000372739.5:c.6213C>G | ENSP00000361824.3:p.Ser2071Arg | |
| ENST00000630804.2:c.6153C>G | ENSP00000486308.1:p.Ser2051Arg | |
| ENST00000630866.1:c.6213C>G | ENSP00000487444.1:p.Ser2071Arg | |
| NM_001130438.2:c.6213C>G | NP_001123910.1:p.Ser2071Arg | |
| NM_001195532.1:c.6138C>G | NP_001182461.1:p.Ser2046Arg | |
| NM_003127.3:c.6198C>G | NP_003118.2:p.Ser2066Arg | |
| XM_006717245.1:c.6249C>G | XP_006717308.1:p.Ser2083Arg | |
| XM_006717246.1:c.6234C>G | XP_006717309.1:p.Ser2078Arg | |
| XM_006717247.1:c.6189C>G | XP_006717310.1:p.Ser2063Arg | |
| XM_006717248.1:c.6249C>G | XP_006717311.1:p.Ser2083Arg | |
| XM_006717249.1:c.6234C>G | XP_006717312.1:p.Ser2078Arg | |
| XM_006717250.1:c.6249C>G | XP_006717313.1:p.Ser2083Arg | |
| XM_006717251.1:c.6153C>G | XP_006717314.1:p.Ser2051Arg | |
| XM_006717252.1:c.6189C>G | XP_006717315.1:p.Ser2063Arg | |
| XM_006717253.1:c.6174C>G | XP_006717316.1:p.Ser2058Arg | |
| XM_006717254.1:c.6213C>G | XP_006717317.1:p.Ser2071Arg | |
| NM_001363759.1:c.6213C>G | NP_001350688.1:p.Ser2071Arg | |
| NM_001363765.1:c.6153C>G | NP_001350694.1:p.Ser2051Arg | |
| XM_006717247.2:c.6189C>G | XP_006717310.1:p.Ser2063Arg | |
| XM_006717248.2:c.6249C>G | XP_006717311.1:p.Ser2083Arg | |
| XM_006717251.2:c.6153C>G | XP_006717314.1:p.Ser2051Arg | |
| XM_006717252.3:c.6189C>G | XP_006717315.1:p.Ser2063Arg | |
| XM_017015059.1:c.6213C>G | XP_016870548.1:p.Ser2071Arg | |
| XM_017015060.1:c.6189C>G | XP_016870549.1:p.Ser2063Arg | |
| NM_001130438.3:c.6213C>G MANE Select | NP_001123910.1:p.Ser2071Arg | |
| NM_001195532.2:c.6138C>G | NP_001182461.1:p.Ser2046Arg | |
| NM_001363759.2:c.6213C>G | NP_001350688.1:p.Ser2071Arg | |
| NM_001363765.2:c.6153C>G | NP_001350694.1:p.Ser2051Arg | |
| NM_001375310.1:c.6213C>G | NP_001362239.1:p.Ser2071Arg | |
| NM_001375311.2:c.6213C>G | NP_001362240.1:p.Ser2071Arg | |
| NM_001375312.2:c.6249C>G | NP_001362241.2:p.Ser2083Arg | |
| NM_001375313.1:c.6213C>G | NP_001362242.1:p.Ser2071Arg | |
| NM_001375314.2:c.6153C>G | NP_001362243.1:p.Ser2051Arg | |
| NM_001375318.1:c.6249C>G | NP_001362247.1:p.Ser2083Arg | |
| NM_003127.4:c.6198C>G | NP_003118.2:p.Ser2066Arg |