Revel Score:
ENST00000318410 (MANE Select)
0.335
ENST00000517845
0.335
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00021979 (AFR)
Genomes Max Group AF
0.00018492 (AFR)
Exomes Max Group AF
0.00018338 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.125056751C>T , CM000670.2:g.125056751C>T | GRCh38 |
| NC_000008.10:g.126068993C>T , CM000670.1:g.126068993C>T | GRCh37 |
| NC_000008.9:g.126138175C>T | NCBI36 |
| NG_012636.1:g.40069G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318410.12:c.1942G>A MANE Select | ENSP00000318016.7:p.Asp648Asn | |
| ENST00000318410.11:c.1942G>A | ENSP00000318016.7:p.Asp648Asn | |
| ENST00000517845.5:c.1498G>A | ENSP00000429676.1:p.Asp500Asn | |
| NM_014846.3:c.1942G>A | NP_055661.3:p.Asp648Asn | |
| XM_005251120.2:c.1498G>A | XP_005251177.1:p.Asp500Asn | |
| XM_011517409.1:c.1942G>A | XP_011515711.1:p.Asp648Asn | |
| XM_011517410.1:c.1942G>A | XP_011515712.1:p.Asp648Asn | |
| NM_001330609.1:c.1498G>A | NP_001317538.1:p.Asp500Asn | |
| XM_017014113.2:c.1942G>A | XP_016869602.1:p.Asp648Asn | |
| NM_014846.4:c.1942G>A MANE Select | NP_055661.3:p.Asp648Asn | |
| NM_001330609.2:c.1498G>A | NP_001317538.1:p.Asp500Asn |