Revel Score:
ENST00000512123 (MANE Select)
0.210
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005711 (NFE)
Genomes Max Group AF
0.00002847 (NFE)
Exomes Max Group AF
0.00005624 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78477886T>C , CM000666.2:g.78477886T>C | GRCh38 |
| NC_000004.11:g.79399040T>C , CM000666.1:g.79399040T>C | GRCh37 |
| NC_000004.10:g.79618064T>C | NCBI36 |
| NG_015812.1:g.425317T>C | |
| NG_015812.2:g.425317T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682513.1:c.7923T>C | ENSP00000508201.1:p.Asn2641= | |
| ENST00000512123.4:c.7923T>C MANE Select | ENSP00000422834.2:p.Asn2641= | |
| ENST00000512123.3:c.7923T>C | ENSP00000422834.2:p.Asn2641= | |
| NM_025074.6:c.7923T>C | NP_079350.5:p.Asn2641= | |
| XM_006714314.1:c.7917T>C | XP_006714377.1:p.Asn2639= | |
| XM_006714316.1:c.7695T>C | XP_006714379.1:p.Asn2565= | |
| XM_011532270.1:c.5622T>C | XP_011530572.1:p.Asn1874= | |
| XM_011532271.1:c.2811T>C | XP_011530573.1:p.Asn937= | |
| XM_006714316.3:c.7695T>C | XP_006714379.1:p.Asn2565= | |
| NM_025074.7:c.7923T>C MANE Select | NP_079350.5:p.Asn2641= |