Revel Score:
ENST00000416804
0.019
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33085905G>T , CM000668.2:g.33085905G>T | GRCh38 |
| NC_000006.11:g.33053682G>T , CM000668.1:g.33053682G>T | GRCh37 |
| NC_000006.10:g.33161660G>T | NCBI36 |
| NG_033242.1:g.14980G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418931.7:c.757+16G>T MANE Select | ENSP00000408146.2:n.757+16G>T | |
| ENST00000416804.1:c.673G>T | ||
| ENST00000418931.6:c.757+16G>T | ENSP00000408146.2:n.757+16G>T | |
| NM_002121.5:c.757+16G>T | NP_002112.3:n.757+16G>T | |
| XM_006715078.2:c.445+16G>T | XP_006715141.1:n.445+16G>T | |
| NM_002121.6:c.757+16G>T MANE Select | NP_002112.3:n.757+16G>T |