Revel Score:
ENST00000512123 (MANE Select)
0.145
ENST00000264895
0.092
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00701788 (AFR)
Genomes Max Group AF
0.00712377 (AFR)
Exomes Max Group AF
0.00642488 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78540690A>G , CM000666.2:g.78540690A>G | GRCh38 |
| NC_000004.11:g.79461844A>G , CM000666.1:g.79461844A>G | GRCh37 |
| NC_000004.10:g.79680868A>G | NCBI36 |
| NG_015812.1:g.488121A>G | |
| NG_015812.2:g.488121A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000512123.4:c.11605A>G MANE Select | ENSP00000422834.2:p.Ile3869Val | |
| ENST00000512123.3:c.11605A>G | ENSP00000422834.2:p.Ile3869Val | |
| NM_025074.6:c.11605A>G | NP_079350.5:p.Ile3869Val | |
| XM_006714314.1:c.11599A>G | XP_006714377.1:p.Ile3867Val | |
| XM_006714316.1:c.11377A>G | XP_006714379.1:p.Ile3793Val | |
| XM_011532270.1:c.9304A>G | XP_011530572.1:p.Ile3102Val | |
| XM_011532271.1:c.6493A>G | XP_011530573.1:p.Ile2165Val | |
| XM_006714316.3:c.11377A>G | XP_006714379.1:p.Ile3793Val | |
| NM_025074.7:c.11605A>G MANE Select | NP_079350.5:p.Ile3869Val |