Revel Score:
ENST00000267622 (MANE Select)
0.021
ENST00000542257
0.021
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00167525 (NFE)
Genomes Max Group AF
0.00129108 (NFE)
Exomes Max Group AF
0.00168601 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91976152C>A , CM000676.2:g.91976152C>A | GRCh38 |
| NC_000014.8:g.92442496C>A , CM000676.1:g.92442496C>A | GRCh37 |
| NC_000014.7:g.91512249C>A | NCBI36 |
| NG_016970.1:g.68908G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267622.8:c.5298G>T MANE Select | ENSP00000267622.4:p.Lys1766Asn | |
| ENST00000554357.5:c.4444G>T | ||
| ENST00000557017.1:c.669G>T | ENSP00000451607.1:n.669G>T | |
| NM_004239.3:c.5298G>T | NP_004230.2:p.Lys1766Asn | |
| XM_005268214.2:c.3972G>T | XP_005268271.1:p.Lys1324Asn | |
| XM_005268215.2:c.2268G>T | XP_005268272.1:p.Lys756Asn | |
| XM_006720321.2:c.5295G>T | XP_006720384.1:p.Lys1765Asn | |
| XR_943560.1:n.5876G>T | ||
| NM_001321851.1:c.5295G>T | NP_001308780.1:p.Lys1765Asn | |
| NM_004239.4:c.5298G>T MANE Select | NP_004230.2:p.Lys1766Asn | |
| XM_017021787.2:c.4593G>T | XP_016877276.1:p.Lys1531Asn | |
| XM_017021788.2:c.3972G>T | XP_016877277.1:p.Lys1324Asn | |
| XR_943560.2:n.5870G>T |