Revel Score:
ENST00000226574 (MANE Select)
0.014
ENST00000394820
0.014
ENST00000505458
0.014
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00857135 (AFR)
Genomes Max Group AF
0.00778501 (AFR)
Exomes Max Group AF
0.0090337 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102596306C>T , CM000666.2:g.102596306C>T | GRCh38 |
| NC_000004.11:g.103517463C>T , CM000666.1:g.103517463C>T | GRCh37 |
| NC_000004.10:g.103736501C>T | NCBI36 |
| NG_050628.1:g.99978C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507079.6:c.1493C>T | ENSP00000426147.2:p.Thr498Ile | |
| ENST00000509165.2:c.1469C>T | ENSP00000423877.2:p.Thr490Ile | |
| ENST00000697794.1:c.*1110C>T | ENSP00000513443.1:n.*1110C>T | |
| ENST00000697799.1:n.966C>T | ||
| ENST00000698233.1:n.11C>T | ||
| ENST00000226574.9:c.1469C>T MANE Select | ENSP00000226574.4:p.Thr490Ile | |
| ENST00000652569.1:c.1445C>T | ||
| ENST00000652619.1:c.1490C>T | ENSP00000499031.1:p.Thr497Ile | |
| ENST00000226574.8:c.1469C>T | ENSP00000226574.4:p.Thr490Ile | |
| ENST00000394820.8:c.1466C>T | ENSP00000378297.4:p.Thr489Ile | |
| ENST00000504044.1:n.579C>T | ||
| ENST00000505458.5:c.1466C>T | ENSP00000424790.1:p.Thr489Ile | |
| ENST00000600343.5:c.926C>T | ENSP00000469340.1:p.Thr309Ile | |
| NM_001165412.1:c.1466C>T | NP_001158884.1:p.Thr489Ile | |
| NM_003998.3:c.1469C>T | NP_003989.2:p.Thr490Ile | |
| XM_011532006.1:c.1490C>T | XP_011530308.1:p.Thr497Ile | |
| XM_011532007.1:c.1466C>T | XP_011530309.1:p.Thr489Ile | |
| XM_011532008.1:c.1310C>T | XP_011530310.1:p.Thr437Ile | |
| XM_011532009.1:c.1073C>T | XP_011530311.1:p.Thr358Ile | |
| NM_001319226.1:c.1466C>T | NP_001306155.1:p.Thr489Ile | |
| XM_011532006.2:c.1490C>T | XP_011530308.1:p.Thr497Ile | |
| XM_024454067.1:c.1493C>T | XP_024309835.1:p.Thr498Ile | |
| XM_024454068.1:c.1469C>T | XP_024309836.1:p.Thr490Ile | |
| XM_024454069.1:c.1334C>T | XP_024309837.1:p.Thr445Ile | |
| NM_003998.4:c.1469C>T MANE Select | NP_003989.2:p.Thr490Ile | |
| NM_001165412.2:c.1466C>T | NP_001158884.1:p.Thr489Ile | |
| NM_001319226.2:c.1466C>T | NP_001306155.1:p.Thr489Ile | |
| NM_001382625.1:c.1469C>T | NP_001369554.1:p.Thr490Ile | |
| NM_001382626.1:c.1469C>T | NP_001369555.1:p.Thr490Ile | |
| NM_001382627.1:c.1466C>T | NP_001369556.1:p.Thr489Ile | |
| NM_001382628.1:c.1427C>T | NP_001369557.1:p.Thr476Ile |