Revel Score:
ENST00000302592
0.131
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.58203503T>G , CM000673.2:g.58203503T>G | GRCh38 |
| NC_000011.9:g.57970975T>G , CM000673.1:g.57970975T>G | GRCh37 |
| NC_000011.8:g.57727551T>G | NCBI36 |
| NG_053130.1:g.5679A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641683.2:c.640A>C MANE Select | ENSP00000493223.1:p.Ile214Leu | |
| ENST00000302592.7:c.679A>C | ENSP00000305469.6:p.Ile227Leu | |
| ENST00000641683.1:c.640A>C | ENSP00000493223.1:p.Ile214Leu | |
| ENST00000302592.6:c.679A>C | ENSP00000305469.6:p.Ile227Leu | |
| NM_001004459.1:c.679A>C | NP_001004459.1:p.Ile227Leu | |
| NM_001004459.2:c.640A>C MANE Select | NP_001004459.2:p.Ile214Leu |