Revel Score:
ENST00000316623 (MANE Select)
0.857
ENST00000389087
0.857
ENST00000544030
0.857
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48437026T>C , CM000677.2:g.48437026T>C | GRCh38 |
| NC_000015.9:g.48729223T>C , CM000677.1:g.48729223T>C | GRCh37 |
| NC_000015.8:g.46516515T>C | NCBI36 |
| NG_008805.2:g.213763A>G , LRG_778:g.213763A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6431A>G | ENSP00000453958.2:p.Asn2144Ser | |
| ENST00000674301.2:c.6431A>G | ENSP00000501333.2:p.Asn2144Ser | |
| ENST00000682170.1:n.40A>G | ||
| ENST00000316623.10:c.6431A>G MANE Select | ENSP00000325527.5:p.Asn2144Ser | |
| ENST00000674301.1:c.1430A>G | ENSP00000501333.1:p.Asn477Ser | |
| ENST00000316623.9:c.6431A>G | ENSP00000325527.5:p.Asn2144Ser | |
| ENST00000537463.6:c.*2194A>G | ENSP00000440294.2:n.*2194A>G | |
| ENST00000559133.5:c.1738A>G | ||
| NM_000138.4:c.6431A>G , LRG_778t1:c.6431A>G | NP_000129.3:p.Asn2144Ser | |
| NM_000138.5:c.6431A>G MANE Select | NP_000129.3:p.Asn2144Ser |