Revel Score:
ENST00000512123 (MANE Select)
0.087
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001107 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00001012 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78508856T>C , CM000666.2:g.78508856T>C | GRCh38 |
| NC_000004.11:g.79430010T>C , CM000666.1:g.79430010T>C | GRCh37 |
| NC_000004.10:g.79649034T>C | NCBI36 |
| NG_015812.1:g.456287T>C | |
| NG_015812.2:g.456287T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682513.1:c.9630T>C | ENSP00000508201.1:p.Ala3210= | |
| ENST00000512123.4:c.9630T>C MANE Select | ENSP00000422834.2:p.Ala3210= | |
| ENST00000512123.3:c.9630T>C | ENSP00000422834.2:p.Ala3210= | |
| NM_025074.6:c.9630T>C | NP_079350.5:p.Ala3210= | |
| XM_006714314.1:c.9624T>C | XP_006714377.1:p.Ala3208= | |
| XM_006714316.1:c.9402T>C | XP_006714379.1:p.Ala3134= | |
| XM_011532270.1:c.7329T>C | XP_011530572.1:p.Ala2443= | |
| XM_011532271.1:c.4518T>C | XP_011530573.1:p.Ala1506= | |
| XM_006714316.3:c.9402T>C | XP_006714379.1:p.Ala3134= | |
| NM_025074.7:c.9630T>C MANE Select | NP_079350.5:p.Ala3210= |