Revel Score:
ENST00000338616 (MANE Select)
0.203
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.131544117T>G , CM000685.2:g.131544117T>G | GRCh38 |
| NC_000023.10:g.130678091T>G , CM000685.1:g.130678091T>G | GRCh37 |
| NC_000023.9:g.130505772T>G | NCBI36 |
| NG_021190.3:g.39783A>C | |
| NG_021190.4:g.39783A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338616.6:c.44T>G (OR13H1) MANE Select | ENSP00000340748.3:p.Ile15Ser | |
| ENST00000338616.5:c.44T>G (OR13H1) | ENSP00000340748.3:p.Ile15Ser | |
| ENST00000338616.4:c.44T>G (OR13H1) | ENSP00000340748.3:p.Ile15Ser | |
| ENST00000370904.6:c.-913+34551A>C (IGSF1) | ENSP00000359941.1:n.-913+34551A>C | |
| NM_001004486.1:c.44T>G (OR13H1) MANE Select | NP_001004486.1:p.Ile15Ser |