Revel Score:
ENST00000342916
0.616
ENST00000344576
0.616
ENST00000420316
0.616
ENST00000275493 (MANE Select)
0.616
ENST00000442591
0.616
ENST00000450046
0.616
ENST00000454757
0.616
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55146655C>G , CM000669.2:g.55146655C>G | GRCh38 |
| NC_000007.13:g.55214348C>G , CM000669.1:g.55214348C>G | GRCh37 |
| NC_000007.12:g.55181842C>G | NCBI36 |
| NG_007726.3:g.132624C>G , LRG_304:g.132624C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450046.2:c.315C>G | ENSP00000413354.2:p.Asn105Lys | |
| ENST00000700144.1:n.664C>G | ||
| ENST00000344576.7:c.474C>G | ENSP00000345973.2:p.Asn158Lys | |
| ENST00000275493.7:c.474C>G MANE Select | ENSP00000275493.2:p.Asn158Lys | |
| ENST00000275493.6:c.474C>G | ENSP00000275493.2:p.Asn158Lys | |
| ENST00000342916.7:c.474C>G | ENSP00000342376.3:p.Asn158Lys | |
| ENST00000344576.6:c.474C>G | ENSP00000345973.2:p.Asn158Lys | |
| ENST00000420316.6:c.474C>G | ENSP00000413843.2:p.Asn158Lys | |
| ENST00000442591.5:c.474C>G | ENSP00000410031.1:p.Asn158Lys | |
| ENST00000450046.1:c.315C>G | ENSP00000413354.1:p.Asn105Lys | |
| ENST00000454757.6:c.424+3167C>G | ENSP00000395243.3:n.424+3167C>G | |
| ENST00000455089.5:c.424+3167C>G | ENSP00000415559.1:n.424+3167C>G | |
| NM_005228.3:c.474C>G , LRG_304t1:c.474C>G | NP_005219.2:p.Asn158Lys | |
| NM_201282.1:c.474C>G | NP_958439.1:p.Asn158Lys | |
| NM_201283.1:c.474C>G | NP_958440.1:p.Asn158Lys | |
| NM_201284.1:c.474C>G | NP_958441.1:p.Asn158Lys | |
| NM_001346897.1:c.424+3167C>G | NP_001333826.1:n.424+3167C>G | |
| NM_001346898.1:c.474C>G | NP_001333827.1:p.Asn158Lys | |
| NM_001346899.1:c.424+3167C>G | NP_001333828.1:n.424+3167C>G | |
| NM_001346900.1:c.315C>G | NP_001333829.1:p.Asn105Lys | |
| NM_001346941.1:c.89-9175C>G | NP_001333870.1:n.89-9175C>G | |
| NM_005228.4:c.474C>G | NP_005219.2:p.Asn158Lys | |
| NM_005228.5:c.474C>G MANE Select | NP_005219.2:p.Asn158Lys | |
| NM_001346897.2:c.424+3167C>G | NP_001333826.1:n.424+3167C>G | |
| NM_001346898.2:c.474C>G | NP_001333827.1:p.Asn158Lys | |
| NM_001346900.2:c.315C>G | NP_001333829.1:p.Asn105Lys | |
| NM_001346941.2:c.89-9175C>G | NP_001333870.1:n.89-9175C>G | |
| NM_201282.2:c.474C>G | NP_958439.1:p.Asn158Lys | |
| NM_201284.2:c.474C>G | NP_958441.1:p.Asn158Lys | |
| NM_001346899.2:c.424+3167C>G | NP_001333828.1:n.424+3167C>G | |
| NM_201283.2:c.474C>G | NP_958440.1:p.Asn158Lys |