Revel Score:
ENST00000553984
0.051
ENST00000359243
0.071
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001645 (NFE)
Exomes Max Group AF
0.00001746 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20369542G>T , CM000676.2:g.20369542G>T | GRCh38 |
| NC_000014.8:g.20837701G>T , CM000676.1:g.20837701G>T | GRCh37 |
| NC_000014.7:g.19907541G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262715.10:c.7458C>A MANE Select | ENSP00000262715.5:p.Ile2486= | |
| ENST00000262715.9:c.7458C>A | ENSP00000262715.5:p.Ile2486= | |
| ENST00000553365.5:c.575C>A | ENSP00000450475.1:p.Ser192Tyr | |
| ENST00000553984.1:c.427C>A | ||
| ENST00000555008.5:c.5487C>A | ENSP00000450541.1:p.Ile1829= | |
| ENST00000555727.5:c.*2878C>A | ENSP00000451634.1:n.*2878C>A | |
| ENST00000556935.5:c.7134C>A | ENSP00000452574.1:p.Ile2378= | |
| NM_007110.4:c.7458C>A | NP_009041.2:p.Ile2486= | |
| XM_005268027.3:c.7458C>A | XP_005268084.1:p.Ile2486= | |
| XM_011537110.1:c.5889C>A | XP_011535412.1:p.Ile1963= | |
| XR_245720.2:n.8589C>A | ||
| XR_429328.2:n.8626C>A | ||
| NM_001319035.1:c.7134C>A | NP_001305964.1:p.Ile2378= | |
| XM_005268027.5:c.7458C>A | XP_005268084.1:p.Ile2486= | |
| XM_011537110.2:c.5889C>A | XP_011535412.1:p.Ile1963= | |
| XR_001750531.1:n.7521C>A | ||
| XR_245720.3:n.7484C>A | ||
| NM_007110.5:c.7458C>A MANE Select | NP_009041.2:p.Ile2486= | |
| NM_001319035.2:c.7134C>A | NP_001305964.1:p.Ile2378= |