Revel Score:
ENST00000322641 (MANE Select)
0.102
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5489290T>G , CM000673.2:g.5489290T>G | GRCh38 |
| NC_000011.9:g.5510520T>G , CM000673.1:g.5510520T>G | GRCh37 |
| NC_000011.8:g.5467096T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292896.3:c.-267+16279A>C (HBE1) | ENSP00000292896.2:n.-267+16279A>C | |
| ENST00000380252.6:c.-74+16061A>C (HBG2) | ENSP00000369602.2:n.-74+16061A>C | |
| ENST00000380259.7:c.982+101535A>C | ENSP00000369609.3:n.982+101535A>C | |
| ENST00000415970.6:n.84+16279A>C (OR51B5) | ||
| ENST00000418729.1:n.84+16279A>C (OR51B5) | ||
| ENST00000420465.6:n.45+16279A>C (OR51B5) | ||
| ENST00000420726.6:n.45+16279A>C (OR51B5) | ||
| ENST00000322641.5:c.584T>G (OR52D1) MANE Select | ENSP00000326232.5:p.Ile195Ser | |
| ENST00000380237.5:c.-310+16279A>C (HBE1) | ENSP00000369586.1:n.-310+16279A>C | |
| ENST00000380252.5:c.62+16061A>C (HBG2) | ENSP00000369602.1:n.62+16061A>C | |
| ENST00000380259.6:c.-565+101535A>C (HBG2) | ENSP00000369609.2:n.-565+101535A>C | |
| ENST00000396895.1:c.-267+16279A>C (HBE1) | ENSP00000380104.1:n.-267+16279A>C | |
| NM_001005163.2:c.584T>G (OR52D1) MANE Select | NP_001005163.1:p.Ile195Ser | |
| NM_001005567.2:c.-360+16279A>C (OR51B5) | NP_001005567.2:n.-360+16279A>C | |
| NR_038321.1:n.84+16279A>C (OR51B5) | ||
| NM_001005567.3:c.-360+16279A>C (OR51B5) | NP_001005567.2:n.-360+16279A>C | |
| NR_038321.2:n.84+16279A>C (OR51B5) |