Revel Score:
ENST00000389857 (MANE Select)
0.026
ENST00000427583
0.026
ENST00000331194
0.026
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00129528 (AFR)
Genomes Max Group AF
0.00150393 (AFR)
Exomes Max Group AF
0.00084927 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91283380T>C , CM000676.2:g.91283380T>C | GRCh38 |
| NC_000014.8:g.91749724T>C , CM000676.1:g.91749724T>C | GRCh37 |
| NC_000014.7:g.90819477T>C | NCBI36 |
| NG_033118.1:g.139465A>G | |
| NG_033118.2:g.139465A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.4579A>G MANE Select | ENSP00000374507.6:p.Thr1527Ala | |
| ENST00000331194.8:c.151A>G | ENSP00000330332.8:p.Thr51Ala | |
| ENST00000334448.5:n.244A>G | ||
| ENST00000389857.10:c.4579A>G | ENSP00000374507.6:p.Thr1527Ala | |
| ENST00000556726.5:c.807A>G | ||
| NM_001080414.3:c.4579A>G | NP_001073883.2:p.Thr1527Ala | |
| XM_011536796.1:c.4471A>G | XP_011535098.1:p.Thr1491Ala | |
| XR_429316.2:n.4707A>G | ||
| XR_943459.1:n.4707A>G | ||
| XM_011536796.2:c.4471A>G | XP_011535098.1:p.Thr1491Ala | |
| XM_017021335.2:c.4579A>G | XP_016876824.1:p.Thr1527Ala | |
| XM_017021336.1:c.1660A>G | XP_016876825.1:p.Thr554Ala | |
| XR_429316.4:n.4705A>G | ||
| NM_001080414.4:c.4579A>G MANE Select | NP_001073883.2:p.Thr1527Ala |