Revel Score:
ENST00000319065
0.909
ENST00000231188
0.909
ENST00000517717 (MANE Select)
0.909
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178989075A>T , CM000667.2:g.178989075A>T | GRCh38 |
| NC_000005.9:g.178416076A>T , CM000667.1:g.178416076A>T | GRCh37 |
| NC_000005.8:g.178348682A>T | NCBI36 |
| NG_008105.1:g.11049T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517717.3:c.1214T>A MANE Select | ENSP00000430767.1:p.Ile405Asn | |
| ENST00000650031.1:c.1214T>A | ENSP00000497110.1:p.Ile405Asn | |
| ENST00000231188.9:c.1214T>A | ENSP00000231188.5:p.Ile405Asn | |
| ENST00000517717.1:c.1214T>A | ENSP00000430767.1:p.Ile405Asn | |
| NM_000843.3:c.1214T>A | NP_000834.2:p.Ile405Asn | |
| XR_941310.1:n.1470-672A>T | ||
| NM_000843.4:c.1214T>A MANE Select | NP_000834.2:p.Ile405Asn |