Revel Score:
ENST00000438045
0.247
ENST00000248633 (MANE Select)
0.247
ENST00000541751
0.247
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001454 (NFE)
Exomes Max Group AF
0.0000146 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92504858A>C , CM000669.2:g.92504858A>C | GRCh38 |
| NC_000007.13:g.92134172A>C , CM000669.1:g.92134172A>C | GRCh37 |
| NC_000007.12:g.91972108A>C | NCBI36 |
| NG_008341.1:g.28674T>G | |
| NG_008341.2:g.28674T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.1945T>G MANE Select | ENSP00000248633.4:p.Ser649Ala | |
| ENST00000248633.8:c.1945T>G | ENSP00000248633.4:p.Ser649Ala | |
| ENST00000428214.5:c.1900+1390T>G | ENSP00000394413.1:n.1900+1390T>G | |
| ENST00000438045.5:c.979T>G | ENSP00000410438.1:p.Ser327Ala | |
| ENST00000484913.5:n.1984T>G | ||
| ENST00000496420.5:n.1621T>G | ||
| NM_000466.2:c.1945T>G | NP_000457.1:p.Ser649Ala | |
| NM_001282677.1:c.1900+1390T>G | NP_001269606.1:n.1900+1390T>G | |
| NM_001282678.1:c.1321T>G | NP_001269607.1:p.Ser441Ala | |
| XM_005250433.3:c.196T>G | XP_005250490.1:p.Ser66Ala | |
| XR_242246.3:n.2041T>G | ||
| XM_017012319.2:c.196T>G | XP_016867808.1:p.Ser66Ala | |
| XR_001744808.2:n.972T>G | ||
| XR_242246.5:n.1992T>G | ||
| NM_000466.3:c.1945T>G MANE Select | NP_000457.1:p.Ser649Ala | |
| NM_001282677.2:c.1900+1390T>G | NP_001269606.1:n.1900+1390T>G | |
| NM_001282678.2:c.1321T>G | NP_001269607.1:p.Ser441Ala |