Revel Score:
ENST00000262464 (MANE Select)
0.137
ENST00000508053
0.137
ENST00000508989
0.137
ENST00000502468
0.137
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000887 (NFE)
Exomes Max Group AF
0.00000942 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128537528T>C , CM000667.2:g.128537528T>C | GRCh38 |
| NC_000005.9:g.127873221T>C , CM000667.1:g.127873221T>C | GRCh37 |
| NC_000005.8:g.127901120T>C | NCBI36 |
| NG_008750.1:g.5515A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508053.6:c.76A>G | ENSP00000424571.2:p.Thr26Ala | |
| ENST00000262464.9:c.76A>G MANE Select | ENSP00000262464.4:p.Thr26Ala | |
| ENST00000262464.8:c.76A>G | ENSP00000262464.4:p.Thr26Ala | |
| ENST00000502468.5:c.76A>G | ENSP00000424753.1:p.Thr26Ala | |
| ENST00000508053.5:c.76A>G | ENSP00000424571.1:p.Thr26Ala | |
| ENST00000508989.5:c.76A>G | ENSP00000425596.1:p.Thr26Ala | |
| ENST00000514742.1:n.696A>G | ||
| ENST00000619499.4:c.76A>G | ENSP00000482132.1:p.Thr26Ala | |
| ENST00000620257.1:c.76A>G | ENSP00000479157.1:p.Thr26Ala | |
| NM_001999.3:c.76A>G | NP_001990.2:p.Thr26Ala | |
| XM_017009228.2:c.76A>G | XP_016864717.1:p.Thr26Ala | |
| NM_001999.4:c.76A>G MANE Select | NP_001990.2:p.Thr26Ala |