Revel Score:
ENST00000370096 (MANE Select)
0.643
ENST00000358392
0.643
ENST00000353414
0.643
ENST00000512756
0.643
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002676 (NFE)
Genomes Max Group AF
0.00000802 (AFR)
Exomes Max Group AF
0.00002839 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102998315G>A , CM000663.2:g.102998315G>A | GRCh38 |
| NC_000001.10:g.103463871G>A , CM000663.1:g.103463871G>A | GRCh37 |
| NC_000001.9:g.103236459G>A | NCBI36 |
| NG_008033.1:g.115182C>T | |
| NG_008033.2:g.115182C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.2191C>T MANE Select | ENSP00000359114.3:p.Pro731Ser | |
| ENST00000353414.8:c.2074C>T | ENSP00000302551.6:p.Pro692Ser | |
| ENST00000358392.6:c.2227C>T | ENSP00000351163.2:p.Pro743Ser | |
| ENST00000370096.7:c.2191C>T | ENSP00000359114.3:p.Pro731Ser | |
| ENST00000512756.5:c.1843C>T | ENSP00000426533.1:p.Pro615Ser | |
| ENST00000635193.1:c.1509C>T | ||
| NM_001190709.1:c.2074C>T | NP_001177638.1:p.Pro692Ser | |
| NM_001854.3:c.2191C>T | NP_001845.3:p.Pro731Ser | |
| NM_080629.2:c.2227C>T | NP_542196.2:p.Pro743Ser | |
| NM_080630.3:c.1843C>T | NP_542197.3:p.Pro615Ser | |
| XM_011540719.1:c.2191C>T | XP_011539021.1:p.Pro731Ser | |
| XM_011540720.1:c.424C>T | XP_011539022.1:p.Pro142Ser | |
| XM_011540721.1:c.-238C>T | XP_011539023.1:n.-238C>T | |
| XR_946545.1:n.2589C>T | ||
| NR_134980.1:n.2509C>T | ||
| XM_017000334.1:c.2344C>T | XP_016855823.1:p.Pro782Ser | |
| XM_017000335.1:c.2338C>T | XP_016855824.1:p.Pro780Ser | |
| XM_017000336.1:c.2344C>T | XP_016855825.1:p.Pro782Ser | |
| XM_017000337.1:c.742C>T | XP_016855826.1:p.Pro248Ser | |
| NM_001854.4:c.2191C>T MANE Select | NP_001845.3:p.Pro731Ser | |
| NM_080630.4:c.1843C>T | NP_542197.3:p.Pro615Ser | |
| NR_134980.2:n.2535C>T | ||
| NM_001190709.2:c.2074C>T | NP_001177638.1:p.Pro692Ser | |
| NM_080629.3:c.2227C>T | NP_542196.2:p.Pro743Ser |