Revel Score:
ENST00000438045
0.248
ENST00000248633 (MANE Select)
0.248
ENST00000541751
0.248
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00057781 (AFR)
Genomes Max Group AF
0.00055981 (AFR)
Exomes Max Group AF
0.00046909 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92504758G>A , CM000669.2:g.92504758G>A | GRCh38 |
| NC_000007.13:g.92134072G>A , CM000669.1:g.92134072G>A | GRCh37 |
| NC_000007.12:g.91972008G>A | NCBI36 |
| NG_008341.1:g.28774C>T | |
| NG_008341.2:g.28774C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2045C>T MANE Select | ENSP00000248633.4:p.Ala682Val | |
| ENST00000248633.8:c.2045C>T | ENSP00000248633.4:p.Ala682Val | |
| ENST00000428214.5:c.1900+1490C>T | ENSP00000394413.1:n.1900+1490C>T | |
| ENST00000438045.5:c.1079C>T | ENSP00000410438.1:p.Ala360Val | |
| ENST00000484913.5:n.2084C>T | ||
| ENST00000496420.5:n.1721C>T | ||
| NM_000466.2:c.2045C>T | NP_000457.1:p.Ala682Val | |
| NM_001282677.1:c.1900+1490C>T | NP_001269606.1:n.1900+1490C>T | |
| NM_001282678.1:c.1421C>T | NP_001269607.1:p.Ala474Val | |
| XM_005250433.3:c.296C>T | XP_005250490.1:p.Ala99Val | |
| XR_242246.3:n.2141C>T | ||
| XM_017012319.2:c.296C>T | XP_016867808.1:p.Ala99Val | |
| XR_001744808.2:n.1072C>T | ||
| XR_242246.5:n.2092C>T | ||
| NM_000466.3:c.2045C>T MANE Select | NP_000457.1:p.Ala682Val | |
| NM_001282677.2:c.1900+1490C>T | NP_001269606.1:n.1900+1490C>T | |
| NM_001282678.2:c.1421C>T | NP_001269607.1:p.Ala474Val |