Revel Score:
ENST00000319410
0.758
ENST00000302445 (MANE Select)
0.758
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000429 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75631726C>T , CM000678.2:g.75631726C>T | GRCh38 |
| NC_000016.9:g.75665624C>T , CM000678.1:g.75665624C>T | GRCh37 |
| NC_000016.8:g.74223125C>T | NCBI36 |
| NG_028025.1:g.20962G>A , LRG_366:g.20962G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302445.8:c.1045G>A MANE Select | ENSP00000303043.3:p.Asp349Asn | |
| ENST00000302445.7:c.1045G>A | ENSP00000303043.3:p.Asp349Asn | |
| ENST00000319410.9:c.1129G>A | ENSP00000325448.5:p.Asp377Asn | |
| ENST00000562875.5:c.*554G>A | ENSP00000456185.1:n.*554G>A | |
| ENST00000564578.5:c.*588G>A | ENSP00000455818.1:n.*588G>A | |
| ENST00000568378.5:c.147-3737G>A | ENSP00000454512.1:n.147-3737G>A | |
| NM_001130089.1:c.1129G>A , LRG_366t1:c.1129G>A | NP_001123561.1:p.Asp377Asn | |
| NM_005548.2:c.1045G>A | NP_005539.1:p.Asp349Asn | |
| XM_017023217.1:c.577G>A | XP_016878706.1:p.Asp193Asn | |
| NM_001130089.2:c.1129G>A | NP_001123561.1:p.Asp377Asn | |
| NM_001378148.1:c.577G>A | NP_001365077.1:p.Asp193Asn | |
| NM_005548.3:c.1045G>A MANE Select | NP_005539.1:p.Asp349Asn |