Revel Score:
ENST00000420732
0.073
ENST00000533023
0.073
ENST00000323961
0.044
ENST00000528851 (MANE Select)
0.044
ENST00000530839
0.044
ENST00000533989
0.044
ENST00000529054
0.044
ENST00000426738
0.044
ENST00000412309
0.044
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.60173125G>T , CM000673.2:g.60173125G>T | GRCh38 |
| NC_000011.9:g.59940598G>T , CM000673.1:g.59940598G>T | GRCh37 |
| NC_000011.8:g.59697174G>T | NCBI36 |
| NG_033978.1:g.16542C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528851.6:c.554C>A MANE Select | ENSP00000431901.1:p.Thr185Asn | |
| ENST00000412309.6:c.638C>A | ENSP00000403212.2:p.Thr213Asn | |
| ENST00000420732.6:c.450C>A | ENSP00000392921.2:p.Asn150Lys | |
| ENST00000426738.6:c.638C>A | ENSP00000392770.3:p.Thr213Asn | |
| ENST00000527254.5:c.*226C>A | ENSP00000435630.1:n.*226C>A | |
| ENST00000528851.5:c.554C>A | ENSP00000431901.1:p.Thr185Asn | |
| ENST00000529054.5:c.638C>A | ENSP00000435844.1:p.Thr213Asn | |
| ENST00000530839.5:c.554C>A | ENSP00000436979.1:p.Thr185Asn | |
| ENST00000531914.5:n.309C>A | ||
| ENST00000533023.5:c.258C>A | ENSP00000436172.1:p.Asn86Lys | |
| ENST00000533989.5:c.254C>A | ||
| NM_001247999.1:c.638C>A | NP_001234928.1:p.Thr213Asn | |
| NM_022349.3:c.554C>A | NP_071744.2:p.Thr185Asn | |
| NM_152851.2:c.450C>A | NP_690590.1:p.Asn150Lys | |
| NM_152852.2:c.554C>A | NP_690591.1:p.Thr185Asn | |
| XM_005274177.1:c.638C>A | XP_005274234.1:p.Thr213Asn | |
| XM_005274178.1:c.638C>A | XP_005274235.1:p.Thr213Asn | |
| XM_006718658.1:c.638C>A | XP_006718721.1:p.Thr213Asn | |
| XM_006718659.1:c.638C>A | XP_006718722.1:p.Thr213Asn | |
| XM_006718660.1:c.503C>A | XP_006718723.1:p.Thr168Asn | |
| XM_006718661.1:c.503C>A | XP_006718724.1:p.Thr168Asn | |
| XM_006718662.1:c.419C>A | XP_006718725.1:p.Thr140Asn | |
| XM_006718663.1:c.419C>A | XP_006718726.1:p.Thr140Asn | |
| XM_011545208.1:c.554C>A | XP_011543510.1:p.Thr185Asn | |
| NM_001330275.1:c.638C>A | NP_001317204.1:p.Thr213Asn | |
| XM_005274177.3:c.638C>A | XP_005274234.1:p.Thr213Asn | |
| XM_006718660.2:c.503C>A | XP_006718723.1:p.Thr168Asn | |
| XM_006718661.2:c.503C>A | XP_006718724.1:p.Thr168Asn | |
| XM_024448652.1:c.638C>A | XP_024304420.1:p.Thr213Asn | |
| XM_024448653.1:c.554C>A | XP_024304421.1:p.Thr185Asn | |
| XM_024448654.1:c.419C>A | XP_024304422.1:p.Thr140Asn | |
| XM_024448655.1:c.419C>A | XP_024304423.1:p.Thr140Asn | |
| NM_152852.3:c.554C>A | NP_690591.1:p.Thr185Asn | |
| NM_001247999.2:c.638C>A | NP_001234928.1:p.Thr213Asn | |
| NM_022349.4:c.554C>A MANE Select | NP_071744.2:p.Thr185Asn |