Revel Score:
ENST00000420732
0.006
ENST00000533023
0.006
ENST00000323961
0.059
ENST00000528851 (MANE Select)
0.059
ENST00000530839
0.059
ENST00000533989
0.059
ENST00000529054
0.059
ENST00000426738
0.059
ENST00000412309
0.059
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45010166 (SAS)
Genomes Max Group AF
0.43302405 (SAS)
Exomes Max Group AF
0.45027465 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.60173126T>A , CM000673.2:g.60173126T>A | GRCh38 |
| NC_000011.9:g.59940599T>A , CM000673.1:g.59940599T>A | GRCh37 |
| NC_000011.8:g.59697175T>A | NCBI36 |
| NG_033978.1:g.16541A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528851.6:c.553A>T MANE Select | ENSP00000431901.1:p.Thr185Ser | |
| ENST00000412309.6:c.637A>T | ENSP00000403212.2:p.Thr213Ser | |
| ENST00000420732.6:c.449A>T | ENSP00000392921.2:p.Asn150Ile | |
| ENST00000426738.6:c.637A>T | ENSP00000392770.3:p.Thr213Ser | |
| ENST00000527254.5:c.*225A>T | ENSP00000435630.1:n.*225A>T | |
| ENST00000528851.5:c.553A>T | ENSP00000431901.1:p.Thr185Ser | |
| ENST00000529054.5:c.637A>T | ENSP00000435844.1:p.Thr213Ser | |
| ENST00000530839.5:c.553A>T | ENSP00000436979.1:p.Thr185Ser | |
| ENST00000531914.5:n.308A>T | ||
| ENST00000533023.5:c.257A>T | ENSP00000436172.1:p.Asn86Ile | |
| ENST00000533989.5:c.253A>T | ||
| NM_001247999.1:c.637A>T | NP_001234928.1:p.Thr213Ser | |
| NM_022349.3:c.553A>T | NP_071744.2:p.Thr185Ser | |
| NM_152851.2:c.449A>T | NP_690590.1:p.Asn150Ile | |
| NM_152852.2:c.553A>T | NP_690591.1:p.Thr185Ser | |
| XM_005274177.1:c.637A>T | XP_005274234.1:p.Thr213Ser | |
| XM_005274178.1:c.637A>T | XP_005274235.1:p.Thr213Ser | |
| XM_006718658.1:c.637A>T | XP_006718721.1:p.Thr213Ser | |
| XM_006718659.1:c.637A>T | XP_006718722.1:p.Thr213Ser | |
| XM_006718660.1:c.502A>T | XP_006718723.1:p.Thr168Ser | |
| XM_006718661.1:c.502A>T | XP_006718724.1:p.Thr168Ser | |
| XM_006718662.1:c.418A>T | XP_006718725.1:p.Thr140Ser | |
| XM_006718663.1:c.418A>T | XP_006718726.1:p.Thr140Ser | |
| XM_011545208.1:c.553A>T | XP_011543510.1:p.Thr185Ser | |
| NM_001330275.1:c.637A>T | NP_001317204.1:p.Thr213Ser | |
| XM_005274177.3:c.637A>T | XP_005274234.1:p.Thr213Ser | |
| XM_006718660.2:c.502A>T | XP_006718723.1:p.Thr168Ser | |
| XM_006718661.2:c.502A>T | XP_006718724.1:p.Thr168Ser | |
| XM_024448652.1:c.637A>T | XP_024304420.1:p.Thr213Ser | |
| XM_024448653.1:c.553A>T | XP_024304421.1:p.Thr185Ser | |
| XM_024448654.1:c.418A>T | XP_024304422.1:p.Thr140Ser | |
| XM_024448655.1:c.418A>T | XP_024304423.1:p.Thr140Ser | |
| NM_152852.3:c.553A>T | NP_690591.1:p.Thr185Ser | |
| NM_001247999.2:c.637A>T | NP_001234928.1:p.Thr213Ser | |
| NM_022349.4:c.553A>T MANE Select | NP_071744.2:p.Thr185Ser |