Revel Score:
ENST00000512123 (MANE Select)
0.320
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00043016 (MID)
Genomes Max Group AF
0.00004765 (NFE)
Exomes Max Group AF
0.0003412 (MID)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78452213C>T , CM000666.2:g.78452213C>T | GRCh38 |
| NC_000004.11:g.79373367C>T , CM000666.1:g.79373367C>T | GRCh37 |
| NC_000004.10:g.79592391C>T | NCBI36 |
| NG_015812.1:g.399644C>T | |
| NG_015812.2:g.399644C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682513.1:c.6622C>T | ENSP00000508201.1:p.Leu2208= | |
| ENST00000512123.4:c.6622C>T MANE Select | ENSP00000422834.2:p.Leu2208= | |
| ENST00000512123.3:c.6622C>T | ENSP00000422834.2:p.Leu2208= | |
| NM_025074.6:c.6622C>T | NP_079350.5:p.Leu2208= | |
| XM_006714314.1:c.6616C>T | XP_006714377.1:p.Leu2206= | |
| XM_006714316.1:c.6622C>T | XP_006714379.1:p.Leu2208= | |
| XM_011532270.1:c.4321C>T | XP_011530572.1:p.Leu1441= | |
| XM_011532271.1:c.1510C>T | XP_011530573.1:p.Leu504= | |
| XM_006714316.3:c.6622C>T | XP_006714379.1:p.Leu2208= | |
| NM_025074.7:c.6622C>T MANE Select | NP_079350.5:p.Leu2208= |