gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000553 (AMR)
Exomes Max Group AF
0.00000741 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128632431G>A , CM000671.2:g.128632431G>A | GRCh38 |
| NC_000009.11:g.131394710G>A , CM000671.1:g.131394710G>A | GRCh37 |
| NC_000009.10:g.130434531G>A | NCBI36 |
| NG_027748.1:g.84874G>A | |
| NG_034056.1:g.29420C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000627441.3:c.6996G>A | ENSP00000486547.2:p.Arg2332= | |
| ENST00000630866.2:c.7023G>A | ENSP00000487444.1:p.Arg2341= | |
| ENST00000704202.1:c.7047G>A | ENSP00000515764.1:p.Arg2349= | |
| ENST00000704203.1:c.6996G>A | ENSP00000515765.1:p.Arg2332= | |
| ENST00000704204.1:c.6486G>A | ENSP00000515766.1:p.Arg2162= | |
| ENST00000704206.1:c.4565G>A | ||
| ENST00000704207.1:c.2902G>A | ||
| ENST00000706487.1:c.6960G>A | ENSP00000516412.1:p.Arg2320= | |
| ENST00000372739.7:c.6960G>A MANE Select | ENSP00000361824.4:p.Arg2320= | |
| ENST00000636010.1:n.684G>A | ||
| ENST00000358161.9:c.6885G>A | ENSP00000350882.6:p.Arg2295= | |
| ENST00000372731.8:c.6945G>A | ENSP00000361816.4:p.Arg2315= | |
| ENST00000372739.5:c.6960G>A | ENSP00000361824.3:p.Arg2320= | |
| ENST00000625980.2:n.914G>A | ||
| ENST00000630763.1:n.717G>A | ||
| ENST00000630804.2:c.6900G>A | ENSP00000486308.1:p.Arg2300= | |
| ENST00000630866.1:c.7023G>A | ENSP00000487444.1:p.Arg2341= | |
| NM_001130438.2:c.6960G>A | NP_001123910.1:p.Arg2320= | |
| NM_001195532.1:c.6885G>A | NP_001182461.1:p.Arg2295= | |
| NM_003127.3:c.6945G>A | NP_003118.2:p.Arg2315= | |
| XM_006717245.1:c.7059G>A | XP_006717308.1:p.Arg2353= | |
| XM_006717246.1:c.7044G>A | XP_006717309.1:p.Arg2348= | |
| XM_006717247.1:c.6999G>A | XP_006717310.1:p.Arg2333= | |
| XM_006717248.1:c.6996G>A | XP_006717311.1:p.Arg2332= | |
| XM_006717249.1:c.6981G>A | XP_006717312.1:p.Arg2327= | |
| XM_006717250.1:c.6978G>A | XP_006717313.1:p.Arg2326= | |
| XM_006717251.1:c.6963G>A | XP_006717314.1:p.Arg2321= | |
| XM_006717252.1:c.6936G>A | XP_006717315.1:p.Arg2312= | |
| XM_006717253.1:c.6921G>A | XP_006717316.1:p.Arg2307= | |
| XM_006717254.1:c.7023G>A | XP_006717317.1:p.Arg2341= | |
| NM_001363759.1:c.7023G>A | NP_001350688.1:p.Arg2341= | |
| NM_001363765.1:c.6900G>A | NP_001350694.1:p.Arg2300= | |
| XM_006717247.2:c.6999G>A | XP_006717310.1:p.Arg2333= | |
| XM_006717248.2:c.6996G>A | XP_006717311.1:p.Arg2332= | |
| XM_006717251.2:c.6963G>A | XP_006717314.1:p.Arg2321= | |
| XM_006717252.3:c.6936G>A | XP_006717315.1:p.Arg2312= | |
| XM_017015059.1:c.6942G>A | XP_016870548.1:p.Arg2314= | |
| XM_017015060.1:c.6918G>A | XP_016870549.1:p.Arg2306= | |
| NM_001130438.3:c.6960G>A MANE Select | NP_001123910.1:p.Arg2320= | |
| NM_001195532.2:c.6885G>A | NP_001182461.1:p.Arg2295= | |
| NM_001363759.2:c.7023G>A | NP_001350688.1:p.Arg2341= | |
| NM_001363765.2:c.6900G>A | NP_001350694.1:p.Arg2300= | |
| NM_001375310.1:c.7047G>A | NP_001362239.1:p.Arg2349= | |
| NM_001375311.2:c.6960G>A | NP_001362240.1:p.Arg2320= | |
| NM_001375312.2:c.6996G>A | NP_001362241.2:p.Arg2332= | |
| NM_001375313.1:c.6942G>A | NP_001362242.1:p.Arg2314= | |
| NM_001375314.2:c.6900G>A | NP_001362243.1:p.Arg2300= | |
| NM_001375318.1:c.7059G>A | NP_001362247.1:p.Arg2353= | |
| NM_003127.4:c.6945G>A | NP_003118.2:p.Arg2315= |