Revel Score:
ENST00000265132 (MANE Select)
0.485
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114078120T>G , CM000671.2:g.114078120T>G | GRCh38 |
| NC_000009.11:g.116840400T>G , CM000671.1:g.116840400T>G | GRCh37 |
| NC_000009.10:g.115880221T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265132.8:c.90A>C MANE Select | ENSP00000265132.3:p.Gln30His | |
| ENST00000265132.7:c.90A>C | ENSP00000265132.3:p.Gln30His | |
| ENST00000603230.1:c.90A>C | ENSP00000474859.1:p.Gln30His | |
| NM_001633.3:c.90A>C | NP_001624.1:p.Gln30His | |
| NM_001633.4:c.90A>C MANE Select | NP_001624.1:p.Gln30His |