Revel Score:
ENST00000360614 (MANE Select)
0.748
ENST00000358403
0.748
ENST00000540670
0.748
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000433 (NFE)
Exomes Max Group AF
0.0000046 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.5694889G>A , CM000681.2:g.5694889G>A | GRCh38 |
| NC_000019.9:g.5694900G>A , CM000681.1:g.5694900G>A | GRCh37 |
| NC_000019.8:g.5645900G>A | NCBI36 |
| NG_033142.1:g.30564C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360614.8:c.2026C>T MANE Select | ENSP00000353826.2:p.Pro676Ser | |
| ENST00000360614.7:c.2026C>T | ENSP00000353826.2:p.Pro676Ser | |
| ENST00000540670.6:c.1438C>T | ENSP00000441523.1:p.Pro480Ser | |
| ENST00000585374.5:c.1684C>T | ENSP00000465585.1:p.Pro562Ser | |
| ENST00000587552.5:n.1764C>T | ||
| ENST00000590558.5:c.1833C>T | ENSP00000467808.1:n.1833C>T | |
| ENST00000590729.5:c.1636C>T | ENSP00000465139.1:p.Pro546Ser | |
| ENST00000593119.5:c.1834C>T | ENSP00000468541.1:p.Pro612Ser | |
| NM_001276479.1:c.1834C>T | NP_001263408.1:p.Pro612Ser | |
| NM_001276480.1:c.1438C>T | NP_001263409.1:p.Pro480Ser | |
| NM_004793.3:c.2026C>T | NP_004784.2:p.Pro676Ser | |
| NR_076392.1:n.1850C>T | ||
| NM_001276479.2:c.1834C>T | NP_001263408.1:p.Pro612Ser | |
| NM_004793.4:c.2026C>T MANE Select | NP_004784.2:p.Pro676Ser | |
| NR_076392.2:n.1831C>T |