gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0005186 (NFE)
Genomes Max Group AF
0.00034231 (NFE)
Exomes Max Group AF
0.00052245 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128626609C>T , CM000671.2:g.128626609C>T | GRCh38 |
| NC_000009.11:g.131388888C>T , CM000671.1:g.131388888C>T | GRCh37 |
| NC_000009.10:g.130428709C>T | NCBI36 |
| NG_027748.1:g.79052C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000627441.3:c.6534C>T | ENSP00000486547.2:p.Arg2178= | |
| ENST00000630866.2:c.6498C>T | ENSP00000487444.1:p.Arg2166= | |
| ENST00000704202.1:c.6498C>T | ENSP00000515764.1:p.Arg2166= | |
| ENST00000704203.1:c.6534C>T | ENSP00000515765.1:p.Arg2178= | |
| ENST00000704204.1:c.5961C>T | ENSP00000515766.1:p.Arg1987= | |
| ENST00000704206.1:c.4121C>T | ||
| ENST00000704207.1:c.2440C>T | ||
| ENST00000706487.1:c.6498C>T | ENSP00000516412.1:p.Arg2166= | |
| ENST00000372739.7:c.6498C>T MANE Select | ENSP00000361824.4:p.Arg2166= | |
| ENST00000358161.9:c.6423C>T | ENSP00000350882.6:p.Arg2141= | |
| ENST00000372731.8:c.6483C>T | ENSP00000361816.4:p.Arg2161= | |
| ENST00000372739.5:c.6498C>T | ENSP00000361824.3:p.Arg2166= | |
| ENST00000628614.1:n.99C>T | ||
| ENST00000629089.1:n.236C>T | ||
| ENST00000630804.2:c.6438C>T | ENSP00000486308.1:p.Arg2146= | |
| ENST00000630866.1:c.6498C>T | ENSP00000487444.1:p.Arg2166= | |
| NM_001130438.2:c.6498C>T | NP_001123910.1:p.Arg2166= | |
| NM_001195532.1:c.6423C>T | NP_001182461.1:p.Arg2141= | |
| NM_003127.3:c.6483C>T | NP_003118.2:p.Arg2161= | |
| XM_006717245.1:c.6534C>T | XP_006717308.1:p.Arg2178= | |
| XM_006717246.1:c.6519C>T | XP_006717309.1:p.Arg2173= | |
| XM_006717247.1:c.6474C>T | XP_006717310.1:p.Arg2158= | |
| XM_006717248.1:c.6534C>T | XP_006717311.1:p.Arg2178= | |
| XM_006717249.1:c.6519C>T | XP_006717312.1:p.Arg2173= | |
| XM_006717250.1:c.6534C>T | XP_006717313.1:p.Arg2178= | |
| XM_006717251.1:c.6438C>T | XP_006717314.1:p.Arg2146= | |
| XM_006717252.1:c.6474C>T | XP_006717315.1:p.Arg2158= | |
| XM_006717253.1:c.6459C>T | XP_006717316.1:p.Arg2153= | |
| XM_006717254.1:c.6498C>T | XP_006717317.1:p.Arg2166= | |
| NM_001363759.1:c.6498C>T | NP_001350688.1:p.Arg2166= | |
| NM_001363765.1:c.6438C>T | NP_001350694.1:p.Arg2146= | |
| XM_006717247.2:c.6474C>T | XP_006717310.1:p.Arg2158= | |
| XM_006717248.2:c.6534C>T | XP_006717311.1:p.Arg2178= | |
| XM_006717251.2:c.6438C>T | XP_006717314.1:p.Arg2146= | |
| XM_006717252.3:c.6474C>T | XP_006717315.1:p.Arg2158= | |
| XM_017015059.1:c.6498C>T | XP_016870548.1:p.Arg2166= | |
| XM_017015060.1:c.6474C>T | XP_016870549.1:p.Arg2158= | |
| NM_001130438.3:c.6498C>T MANE Select | NP_001123910.1:p.Arg2166= | |
| NM_001195532.2:c.6423C>T | NP_001182461.1:p.Arg2141= | |
| NM_001363759.2:c.6498C>T | NP_001350688.1:p.Arg2166= | |
| NM_001363765.2:c.6438C>T | NP_001350694.1:p.Arg2146= | |
| NM_001375310.1:c.6498C>T | NP_001362239.1:p.Arg2166= | |
| NM_001375311.2:c.6498C>T | NP_001362240.1:p.Arg2166= | |
| NM_001375312.2:c.6534C>T | NP_001362241.2:p.Arg2178= | |
| NM_001375313.1:c.6498C>T | NP_001362242.1:p.Arg2166= | |
| NM_001375314.2:c.6438C>T | NP_001362243.1:p.Arg2146= | |
| NM_001375318.1:c.6534C>T | NP_001362247.1:p.Arg2178= | |
| NM_003127.4:c.6483C>T | NP_003118.2:p.Arg2161= |