Revel Score:
ENST00000372090 (MANE Select)
0.341
ENST00000539779
0.341
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45343656C>T , CM000663.2:g.45343656C>T | GRCh38 |
| NC_000001.10:g.45809328C>T , CM000663.1:g.45809328C>T | GRCh37 |
| NC_000001.9:g.45581915C>T | NCBI36 |
| NG_008189.1:g.1815G>A , LRG_220:g.1815G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372090.6:c.1487C>T MANE Select | ENSP00000361162.5:p.Ser496Phe | |
| ENST00000671898.1:c.541-9145G>A | ENSP00000499896.1:n.541-9145G>A | |
| ENST00000372090.5:c.1487C>T | ENSP00000361162.5:p.Ser496Phe | |
| ENST00000495703.5:n.1865C>T | ||
| NM_025077.3:c.1487C>T | NP_079353.3:p.Ser496Phe | |
| XM_005270412.2:c.1505C>T | XP_005270469.1:p.Ser502Phe | |
| XM_005270413.3:c.1349C>T | XP_005270470.1:p.Ser450Phe | |
| XM_011540569.1:c.1106C>T | XP_011538871.1:p.Ser369Phe | |
| XR_946532.1:n.1688C>T | ||
| XM_005270412.4:c.1505C>T | XP_005270469.1:p.Ser502Phe | |
| XM_005270413.5:c.1349C>T | XP_005270470.1:p.Ser450Phe | |
| XM_011540569.3:c.1106C>T | XP_011538871.1:p.Ser369Phe | |
| XM_024452837.1:c.1436C>T | XP_024308605.1:p.Ser479Phe | |
| XR_001736951.2:n.1778C>T | ||
| XR_002959287.1:n.2184C>T | ||
| XR_246230.4:n.1782C>T | ||
| XR_426587.4:n.1692C>T | ||
| XR_946532.3:n.1688C>T | ||
| NM_025077.4:c.1487C>T MANE Select | NP_079353.3:p.Ser496Phe |