Revel Score:
ENST00000370449
0.654
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99836193A>G , CM000672.2:g.99836193A>G | GRCh38 |
| NC_000010.10:g.101595950A>G , CM000672.1:g.101595950A>G | GRCh37 |
| NC_000010.9:g.101585940A>G | NCBI36 |
| NG_011798.1:g.58488A>G | |
| NG_011798.2:g.58596A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.3517A>G MANE Select | ENSP00000497274.1:p.Ile1173Val | |
| ENST00000370449.8:c.3517A>G | ENSP00000359478.4:p.Ile1173Val | |
| NM_000392.4:c.3517A>G | NP_000383.1:p.Ile1173Val | |
| XM_006717630.2:c.2821A>G | XP_006717693.1:p.Ile941Val | |
| XR_945604.1:n.3706A>G | ||
| XR_945605.1:n.3708A>G | ||
| NM_000392.5:c.3517A>G MANE Select | NP_000383.2:p.Ile1173Val | |
| XM_006717630.3:c.2821A>G | XP_006717693.1:p.Ile941Val | |
| XR_945604.3:n.3760A>G | ||
| XR_945605.3:n.3760A>G |