Revel Score:
ENST00000512123 (MANE Select)
0.218
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001107 (NFE)
Genomes Max Group AF
0.0000731 (SAS)
Exomes Max Group AF
0.00001175 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78481916C>T , CM000666.2:g.78481916C>T | GRCh38 |
| NC_000004.11:g.79403070C>T , CM000666.1:g.79403070C>T | GRCh37 |
| NC_000004.10:g.79622094C>T | NCBI36 |
| NG_015812.1:g.429347C>T | |
| NG_015812.2:g.429347C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682513.1:c.8556C>T | ENSP00000508201.1:p.Tyr2852= | |
| ENST00000512123.4:c.8556C>T MANE Select | ENSP00000422834.2:p.Tyr2852= | |
| ENST00000512123.3:c.8556C>T | ENSP00000422834.2:p.Tyr2852= | |
| NM_025074.6:c.8556C>T | NP_079350.5:p.Tyr2852= | |
| XM_006714314.1:c.8550C>T | XP_006714377.1:p.Tyr2850= | |
| XM_006714316.1:c.8328C>T | XP_006714379.1:p.Tyr2776= | |
| XM_011532270.1:c.6255C>T | XP_011530572.1:p.Tyr2085= | |
| XM_011532271.1:c.3444C>T | XP_011530573.1:p.Tyr1148= | |
| XM_006714316.3:c.8328C>T | XP_006714379.1:p.Tyr2776= | |
| NM_025074.7:c.8556C>T MANE Select | NP_079350.5:p.Tyr2852= |