Revel Score:
ENST00000301015 (MANE Select)
0.464
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002463 (NFE)
Exomes Max Group AF
0.00002619 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88715960G>C , CM000678.2:g.88715960G>C | GRCh38 |
| NC_000016.9:g.88782368G>C , CM000678.1:g.88782368G>C | GRCh37 |
| NC_000016.8:g.87309869G>C | NCBI36 |
| NG_042229.1:g.74261C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301015.14:c.7289C>G MANE Select | ENSP00000301015.9:p.Pro2430Arg | |
| ENST00000484567.6:n.2348C>G | ||
| ENST00000518793.6:c.121C>G | ||
| ENST00000301015.13:c.7289C>G | ENSP00000301015.9:p.Pro2430Arg | |
| ENST00000327397.8:c.882+11C>G | ENSP00000333704.7:n.882+11C>G | |
| ENST00000419505.5:c.1123+11C>G | ENSP00000406358.1:n.1123+11C>G | |
| ENST00000472168.1:n.597C>G | ||
| ENST00000484567.5:n.1925C>G | ||
| ENST00000518793.5:c.121C>G | ||
| ENST00000521877.1:n.253C>G | ||
| NM_001142864.2:c.7289C>G | NP_001136336.2:p.Pro2430Arg | |
| NM_001142864.3:c.7289C>G | NP_001136336.2:p.Pro2430Arg | |
| NM_001142864.4:c.7289C>G MANE Select | NP_001136336.2:p.Pro2430Arg |