Revel Score:
ENST00000321612 (MANE Select)
0.871
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6556159A>C , CM000671.2:g.6556159A>C | GRCh38 |
| NC_000009.11:g.6556159A>C , CM000671.1:g.6556159A>C | GRCh37 |
| NC_000009.10:g.6546159A>C | NCBI36 |
| NG_016397.1:g.94534T>G , LRG_643:g.94534T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2196T>G MANE Select | ENSP00000370737.4:p.Asn732Lys | |
| ENST00000638233.1:n.631T>G | ||
| ENST00000638661.1:c.396T>G | ENSP00000491369.1:p.Asn132Lys | |
| ENST00000638694.1:n.383T>G | ||
| ENST00000639318.1:c.396T>G | ENSP00000491932.1:p.Asn132Lys | |
| ENST00000639364.1:n.1896T>G | ||
| ENST00000639443.1:n.1764T>G | ||
| ENST00000639954.1:n.1904T>G | ||
| ENST00000640505.1:n.435T>G | ||
| ENST00000321612.6:c.2196T>G | ENSP00000370737.3:p.Asn732Lys | |
| NM_000170.2:c.2196T>G , LRG_643t1:c.2196T>G | NP_000161.2:p.Asn732Lys | |
| NM_000170.3:c.2196T>G MANE Select | NP_000161.2:p.Asn732Lys |