Revel Score:
ENST00000520059
0.011
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151027895T>G , CM000667.2:g.151027895T>G | GRCh38 |
| NC_000005.9:g.150407456T>G , CM000667.1:g.150407456T>G | GRCh37 |
| NC_000005.8:g.150387649T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388825.9:c.460-14T>G MANE Select | ENSP00000373477.4:n.460-14T>G | |
| ENST00000388825.8:c.460-14T>G | ENSP00000373477.4:n.460-14T>G | |
| ENST00000517973.1:c.*3-14T>G | ENSP00000429709.1:n.*3-14T>G | |
| ENST00000520059.1:c.226T>G | ||
| ENST00000521632.1:c.269-14T>G | ||
| ENST00000614343.4:c.*241-14T>G | ENSP00000483660.1:n.*241-14T>G | |
| ENST00000622181.4:c.457-14T>G | ENSP00000484258.1:n.457-14T>G | |
| NM_002084.3:c.460-14T>G | NP_002075.2:n.460-14T>G | |
| NM_001329790.1:c.487-14T>G | NP_001316719.1:n.487-14T>G | |
| NM_002084.4:c.460-14T>G | NP_002075.2:n.460-14T>G | |
| NM_002084.5:c.460-14T>G MANE Select | NP_002075.2:n.460-14T>G | |
| NM_001329790.2:c.487-14T>G | NP_001316719.1:n.487-14T>G |