Revel Score:
ENST00000303115 (MANE Select)
0.320
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35874473C>A , CM000667.2:g.35874473C>A | GRCh38 |
| NC_000005.9:g.35874575C>A , CM000667.1:g.35874575C>A | GRCh37 |
| NC_000005.8:g.35910332C>A | NCBI36 |
| NG_009567.1:g.22585C>A , LRG_74:g.22585C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303115.8:c.731C>A MANE Select | ENSP00000306157.3:p.Thr244Asn | |
| ENST00000303115.7:c.731C>A | ENSP00000306157.3:p.Thr244Asn | |
| ENST00000505093.1:c.115+825C>A | ENSP00000426069.1:n.115+825C>A | |
| ENST00000506850.5:c.706+825C>A | ENSP00000421207.1:n.706+825C>A | |
| ENST00000509668.1:n.473C>A | ||
| ENST00000514217.5:c.538-1039C>A | ENSP00000427688.1:n.538-1039C>A | |
| NM_002185.3:c.731C>A | NP_002176.2:p.Thr244Asn | |
| NR_120485.1:n.641-1039C>A | ||
| XM_005248299.2:c.706+825C>A | XP_005248356.1:n.706+825C>A | |
| XM_005248300.1:c.706+825C>A | XP_005248357.1:n.706+825C>A | |
| XM_011514037.1:c.731C>A | XP_011512339.1:p.Thr244Asn | |
| NM_002185.4:c.731C>A | NP_002176.2:p.Thr244Asn | |
| NR_120485.2:n.667-1039C>A | ||
| XM_005248299.4:c.706+825C>A | XP_005248356.1:n.706+825C>A | |
| NM_002185.5:c.731C>A MANE Select | NP_002176.2:p.Thr244Asn | |
| NR_120485.3:n.625-1039C>A |