Revel Score:
ENST00000355265 (MANE Select)
0.587
ENST00000467543
0.587
gnomAD v4:
Joint Max Group AF
0.0002586 (EAS)
Exomes Max Group AF
0.00029301 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142957921G>C , CM000669.2:g.142957921G>C | GRCh38 |
| NC_000007.13:g.142655008G>C , CM000669.1:g.142655008G>C | GRCh37 |
| NC_000007.12:g.142365130G>C | NCBI36 |
| NG_007492.1:g.9496C>G | |
| NG_007492.2:g.9496C>G | |
| NG_007492.3:g.9496C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355265.7:c.578C>G MANE Select | ENSP00000347409.2:p.Thr193Arg | |
| ENST00000467543.6:c.*430C>G | ENSP00000420011.2:n.*430C>G | |
| ENST00000355265.6:c.578C>G | ENSP00000347409.2:p.Thr193Arg | |
| ENST00000467543.5:c.521C>G | ENSP00000420011.1:p.Thr174Arg | |
| ENST00000476829.5:c.525+383C>G | ENSP00000419889.1:n.525+383C>G | |
| ENST00000479768.6:n.696C>G | ||
| ENST00000494148.1:n.177C>G | ||
| NM_000420.2:c.578C>G | NP_000411.1:p.Thr193Arg | |
| XM_005249993.2:c.614C>G | XP_005250050.1:p.Thr205Arg | |
| NM_000420.3:c.578C>G MANE Select | NP_000411.1:p.Thr193Arg |