Revel Score:
ENST00000221930 (MANE Select)
0.067
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.07727302 (NFE)
Genomes Max Group AF
0.0757325 (NFE)
Exomes Max Group AF
0.07727374 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41352971C>G , CM000681.2:g.41352971C>G | GRCh38 |
| NC_000019.9:g.41858876C>G , CM000681.1:g.41858876C>G | GRCh37 |
| NC_000019.8:g.46550716C>G | NCBI36 |
| NG_013091.1:g.16203G>C | |
| NG_013364.1:g.5956G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221930.6:c.74G>C (TGFB1) MANE Select | ENSP00000221930.4:p.Arg25Pro | |
| ENST00000600196.2:c.74G>C (TGFB1) | ENSP00000504008.1:p.Arg25Pro | |
| ENST00000677934.1:c.74G>C (TGFB1) | ENSP00000504769.1:p.Arg25Pro | |
| ENST00000221930.5:c.74G>C (TGFB1) | ENSP00000221930.4:p.Arg25Pro | |
| ENST00000539627.5:c.-30+1769C>G (TMEM91) | ENSP00000441900.1:n.-30+1769C>G | |
| ENST00000604424.1:n.350+1769C>G | ||
| NM_000660.5:c.74G>C (TGFB1) | NP_000651.3:p.Arg25Pro | |
| XM_011527242.1:c.74G>C (TGFB1) | XP_011525544.1:p.Arg25Pro | |
| NM_000660.6:c.74G>C (TGFB1) | NP_000651.3:p.Arg25Pro | |
| XM_011527242.2:c.74G>C (TGFB1) | XP_011525544.1:p.Arg25Pro | |
| NM_000660.7:c.74G>C (TGFB1) MANE Select | NP_000651.3:p.Arg25Pro |