Revel Score:
ENST00000171214
0.176
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001298 (NFE)
Exomes Max Group AF
0.00001377 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10021323T>A , CM000681.2:g.10021323T>A | GRCh38 |
| NC_000019.9:g.10131999T>A , CM000681.1:g.10131999T>A | GRCh37 |
| NC_000019.8:g.9992999T>A | NCBI36 |
| NG_033979.1:g.13075T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000591589.3:c.605T>A MANE Select | ENSP00000466058.2:p.Met202Lys | |
| ENST00000651512.1:c.665T>A | ENSP00000498711.1:p.Met222Lys | |
| ENST00000587782.1:c.50T>A | ||
| ENST00000591589.1:c.665T>A | ENSP00000466058.1:p.Met222Lys | |
| NM_015725.2:c.665T>A | NP_056540.2:p.Met222Lys | |
| NM_015725.3:c.605T>A | NP_056540.3:p.Met202Lys | |
| NM_015725.4:c.605T>A MANE Select | NP_056540.3:p.Met202Lys |