Revel Score:
ENST00000267622 (MANE Select)
0.153
ENST00000542257
0.153
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0115592 (MID)
Genomes Max Group AF
0.00082419 (SAS)
Exomes Max Group AF
0.01132211 (MID)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91974664G>A , CM000676.2:g.91974664G>A | GRCh38 |
| NC_000014.8:g.92441008G>A , CM000676.1:g.92441008G>A | GRCh37 |
| NC_000014.7:g.91510761G>A | NCBI36 |
| NG_016970.1:g.70396C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267622.8:c.5537C>T MANE Select | ENSP00000267622.4:p.Thr1846Ile | |
| ENST00000554357.5:c.4683C>T | ||
| NM_004239.3:c.5537C>T | NP_004230.2:p.Thr1846Ile | |
| XM_005268214.2:c.4211C>T | XP_005268271.1:p.Thr1404Ile | |
| XM_005268215.2:c.2507C>T | XP_005268272.1:p.Thr836Ile | |
| XM_006720321.2:c.5534C>T | XP_006720384.1:p.Thr1845Ile | |
| NM_001321851.1:c.5534C>T | NP_001308780.1:p.Thr1845Ile | |
| NM_004239.4:c.5537C>T MANE Select | NP_004230.2:p.Thr1846Ile | |
| XM_017021787.2:c.4832C>T | XP_016877276.1:p.Thr1611Ile | |
| XM_017021788.2:c.4211C>T | XP_016877277.1:p.Thr1404Ile |