Revel Score:
ENST00000358161
0.709
ENST00000372731
0.709
ENST00000372739 (MANE Select)
0.709
ENST00000372719
0.709
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00023123 (AFR)
Genomes Max Group AF
0.00018514 (AFR)
Exomes Max Group AF
0.00020613 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128633296G>A , CM000671.2:g.128633296G>A | GRCh38 |
| NC_000009.11:g.131395575G>A , CM000671.1:g.131395575G>A | GRCh37 |
| NC_000009.10:g.130435396G>A | NCBI36 |
| NG_027748.1:g.85739G>A | |
| NG_034056.1:g.28555C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000627441.3:c.7432G>A | ENSP00000486547.2:p.Asp2478Asn | |
| ENST00000630866.2:c.7459G>A | ENSP00000487444.1:p.Asp2487Asn | |
| ENST00000704202.1:c.7483G>A | ENSP00000515764.1:p.Asp2495Asn | |
| ENST00000704203.1:c.7432G>A | ENSP00000515765.1:p.Asp2478Asn | |
| ENST00000704204.1:c.6922G>A | ENSP00000515766.1:p.Asp2308Asn | |
| ENST00000704206.1:c.5001G>A | ||
| ENST00000704207.1:c.3338G>A | ||
| ENST00000706487.1:c.7396G>A | ENSP00000516412.1:p.Asp2466Asn | |
| ENST00000372739.7:c.7396G>A MANE Select | ENSP00000361824.4:p.Asp2466Asn | |
| ENST00000636010.1:n.1120G>A | ||
| ENST00000358161.9:c.7321G>A | ENSP00000350882.6:p.Asp2441Asn | |
| ENST00000372731.8:c.7381G>A | ENSP00000361816.4:p.Asp2461Asn | |
| ENST00000372739.5:c.7396G>A | ENSP00000361824.3:p.Asp2466Asn | |
| ENST00000625980.2:n.1350G>A | ||
| ENST00000630147.1:n.419G>A | ||
| ENST00000630763.1:n.1153G>A | ||
| ENST00000630804.2:c.7336G>A | ENSP00000486308.1:p.Asp2446Asn | |
| ENST00000630866.1:c.7459G>A | ENSP00000487444.1:p.Asp2487Asn | |
| NM_001130438.2:c.7396G>A | NP_001123910.1:p.Asp2466Asn | |
| NM_001195532.1:c.7321G>A | NP_001182461.1:p.Asp2441Asn | |
| NM_003127.3:c.7381G>A | NP_003118.2:p.Asp2461Asn | |
| XM_006717245.1:c.7495G>A | XP_006717308.1:p.Asp2499Asn | |
| XM_006717246.1:c.7480G>A | XP_006717309.1:p.Asp2494Asn | |
| XM_006717247.1:c.7435G>A | XP_006717310.1:p.Asp2479Asn | |
| XM_006717248.1:c.7432G>A | XP_006717311.1:p.Asp2478Asn | |
| XM_006717249.1:c.7417G>A | XP_006717312.1:p.Asp2473Asn | |
| XM_006717250.1:c.7414G>A | XP_006717313.1:p.Asp2472Asn | |
| XM_006717251.1:c.7399G>A | XP_006717314.1:p.Asp2467Asn | |
| XM_006717252.1:c.7372G>A | XP_006717315.1:p.Asp2458Asn | |
| XM_006717253.1:c.7357G>A | XP_006717316.1:p.Asp2453Asn | |
| XM_006717254.1:c.7459G>A | XP_006717317.1:p.Asp2487Asn | |
| NM_001363759.1:c.7459G>A | NP_001350688.1:p.Asp2487Asn | |
| NM_001363765.1:c.7336G>A | NP_001350694.1:p.Asp2446Asn | |
| XM_006717247.2:c.7435G>A | XP_006717310.1:p.Asp2479Asn | |
| XM_006717248.2:c.7432G>A | XP_006717311.1:p.Asp2478Asn | |
| XM_006717251.2:c.7399G>A | XP_006717314.1:p.Asp2467Asn | |
| XM_006717252.3:c.7372G>A | XP_006717315.1:p.Asp2458Asn | |
| XM_017015059.1:c.7378G>A | XP_016870548.1:p.Asp2460Asn | |
| XM_017015060.1:c.7354G>A | XP_016870549.1:p.Asp2452Asn | |
| NM_001130438.3:c.7396G>A MANE Select | NP_001123910.1:p.Asp2466Asn | |
| NM_001195532.2:c.7321G>A | NP_001182461.1:p.Asp2441Asn | |
| NM_001363759.2:c.7459G>A | NP_001350688.1:p.Asp2487Asn | |
| NM_001363765.2:c.7336G>A | NP_001350694.1:p.Asp2446Asn | |
| NM_001375310.1:c.7483G>A | NP_001362239.1:p.Asp2495Asn | |
| NM_001375311.2:c.7396G>A | NP_001362240.1:p.Asp2466Asn | |
| NM_001375312.2:c.7432G>A | NP_001362241.2:p.Asp2478Asn | |
| NM_001375313.1:c.7378G>A | NP_001362242.1:p.Asp2460Asn | |
| NM_001375314.2:c.7336G>A | NP_001362243.1:p.Asp2446Asn | |
| NM_001375318.1:c.7495G>A | NP_001362247.1:p.Asp2499Asn | |
| NM_003127.4:c.7381G>A | NP_003118.2:p.Asp2461Asn |