Revel Score:
ENST00000333229
0.237
ENST00000342449 (MANE Select)
0.237
ENST00000380800
0.237
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0019893 (SAS)
Genomes Max Group AF
0.00292121 (SAS)
Exomes Max Group AF
0.00187065 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.39264507T>C , CM000683.2:g.39264507T>C | GRCh38 |
| NC_000021.8:g.40636433T>C , CM000683.1:g.40636433T>C | GRCh37 |
| NC_000021.7:g.39558303T>C | NCBI36 |
| NG_029919.1:g.54280A>G | |
| NG_029919.2:g.54280A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342449.8:c.1838A>G MANE Select | ENSP00000344333.3:p.Asn613Ser | |
| ENST00000333229.6:c.1838A>G | ENSP00000330753.2:p.Asn613Ser | |
| ENST00000342449.7:c.1838A>G | ENSP00000344333.3:p.Asn613Ser | |
| ENST00000380800.7:c.1838A>G | ENSP00000370178.3:p.Asn613Ser | |
| ENST00000412604.1:c.972A>G | ||
| ENST00000430093.5:c.851A>G | ||
| ENST00000445245.5:c.877A>G | ||
| ENST00000445668.5:c.972A>G | ||
| ENST00000446924.5:c.230A>G | ENSP00000391014.1:p.Asn77Ser | |
| ENST00000455867.5:c.972A>G | ||
| NM_018963.4:c.1838A>G | NP_061836.2:p.Asn613Ser | |
| NM_033656.3:c.1838A>G | NP_387505.1:p.Asn613Ser | |
| XM_011529611.1:c.1838A>G | XP_011527913.1:p.Asn613Ser | |
| XM_011529612.1:c.998A>G | XP_011527914.1:p.Asn333Ser | |
| XM_011529612.2:c.998A>G | XP_011527914.1:p.Asn333Ser | |
| XM_017028373.1:c.1577A>G | XP_016883862.1:p.Asn526Ser | |
| XM_017028375.1:c.1838A>G | XP_016883864.1:p.Asn613Ser | |
| XR_001754864.1:n.2166A>G | ||
| NM_018963.5:c.1838A>G | NP_061836.2:p.Asn613Ser | |
| NM_033656.4:c.1838A>G MANE Select | NP_387505.1:p.Asn613Ser |