Revel Score:
ENST00000358465 (MANE Select)
0.112
ENST00000369543
0.112
ENST00000450349
0.112
ENST00000448034
0.053
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114405659A>T , CM000663.2:g.114405659A>T | GRCh38 |
| NC_000001.10:g.114948281A>T , CM000663.1:g.114948281A>T | GRCh37 |
| NC_000001.9:g.114749804A>T | NCBI36 |
| NG_023287.1:g.110501T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358465.7:c.2519T>A MANE Select | ENSP00000351250.2:p.Ile840Asn | |
| ENST00000358465.6:c.2519T>A | ENSP00000351250.2:p.Ile840Asn | |
| ENST00000369543.6:c.2519T>A | ENSP00000358556.2:p.Ile840Asn | |
| ENST00000448034.5:c.1801T>A | ||
| ENST00000450349.3:c.2519T>A | ENSP00000412077.3:p.Ile840Asn | |
| ENST00000476908.1:n.128T>A | ||
| NM_015906.3:c.2519T>A | NP_056990.3:p.Ile840Asn | |
| NM_033020.2:c.2519T>A | NP_148980.2:p.Ile840Asn | |
| XM_005270936.2:c.2591T>A | XP_005270993.1:p.Ile864Asn | |
| XM_005270937.2:c.2591T>A | XP_005270994.1:p.Ile864Asn | |
| XM_011541568.1:c.2588T>A | XP_011539870.1:p.Ile863Asn | |
| XR_246401.2:n.15+2233A>T | ||
| XM_005270936.4:c.2591T>A | XP_005270993.1:p.Ile864Asn | |
| XM_005270937.4:c.2591T>A | XP_005270994.1:p.Ile864Asn | |
| XM_011541568.3:c.2588T>A | XP_011539870.1:p.Ile863Asn | |
| XM_024447584.1:c.965T>A | XP_024303352.1:p.Ile322Asn | |
| NM_015906.4:c.2519T>A MANE Select | NP_056990.3:p.Ile840Asn | |
| NM_033020.3:c.2519T>A | NP_148980.2:p.Ile840Asn |