Revel Score:
ENST00000264895
0.177
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00314582 (MID)
Genomes Max Group AF
0.00289424 (AFR)
Exomes Max Group AF
0.00256569 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78473537A>G , CM000666.2:g.78473537A>G | GRCh38 |
| NC_000004.11:g.79394691A>G , CM000666.1:g.79394691A>G | GRCh37 |
| NC_000004.10:g.79613715A>G | NCBI36 |
| NG_015812.1:g.420968A>G | |
| NG_015812.2:g.420968A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682513.1:c.7622A>G | ENSP00000508201.1:p.Asn2541Ser | |
| ENST00000512123.4:c.7622A>G MANE Select | ENSP00000422834.2:p.Asn2541Ser | |
| ENST00000512123.3:c.7622A>G | ENSP00000422834.2:p.Asn2541Ser | |
| NM_025074.6:c.7622A>G | NP_079350.5:p.Asn2541Ser | |
| XM_006714314.1:c.7616A>G | XP_006714377.1:p.Asn2539Ser | |
| XM_006714316.1:c.7394A>G | XP_006714379.1:p.Asn2465Ser | |
| XM_011532270.1:c.5321A>G | XP_011530572.1:p.Asn1774Ser | |
| XM_011532271.1:c.2510A>G | XP_011530573.1:p.Asn837Ser | |
| XM_006714316.3:c.7394A>G | XP_006714379.1:p.Asn2465Ser | |
| NM_025074.7:c.7622A>G MANE Select | NP_079350.5:p.Asn2541Ser |