Revel Score:
ENST00000328843
0.099
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007257 (AFR)
Genomes Max Group AF
0.00009569 (AFR)
Exomes Max Group AF
0.00000998 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21558953C>T , CM000669.2:g.21558953C>T | GRCh38 |
| NC_000007.13:g.21598571C>T , CM000669.1:g.21598571C>T | GRCh37 |
| NC_000007.12:g.21565096C>T | NCBI36 |
| NG_012886.2:g.20739C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.647C>T MANE Select | ENSP00000475939.1:p.Thr216Ile | |
| ENST00000328843.10:c.647C>T | ENSP00000330671.7:p.Thr216Ile | |
| ENST00000409508.7:c.647C>T | ENSP00000475939.1:p.Thr216Ile | |
| ENST00000620169.4:c.647C>T | ENSP00000481693.1:p.Thr216Ile | |
| NM_001277115.1:c.647C>T | NP_001264044.1:p.Thr216Ile | |
| NM_001277115.2:c.647C>T MANE Select | NP_001264044.1:p.Thr216Ile |