Revel Score:
ENST00000302850 (MANE Select)
0.413
ENST00000341500
0.413
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00063701 (AFR)
Genomes Max Group AF
0.00070528 (AFR)
Exomes Max Group AF
0.0004203 (AFR)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7141786G>A , CM000681.2:g.7141786G>A | GRCh38 |
| NC_000019.9:g.7141797G>A , CM000681.1:g.7141797G>A | GRCh37 |
| NC_000019.8:g.7092797G>A | NCBI36 |
| NG_008852.2:g.157215C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.2573C>T MANE Select | ENSP00000303830.4:p.Thr858Met | |
| ENST00000302850.9:c.2573C>T | ENSP00000303830.4:p.Thr858Met | |
| ENST00000341500.9:c.2537C>T | ENSP00000342838.4:p.Thr846Met | |
| ENST00000597211.1:n.256C>T | ||
| NM_000208.2:c.2573C>T | NP_000199.2:p.Thr858Met | |
| NM_000208.3:c.2573C>T | NP_000199.2:p.Thr858Met | |
| NM_001079817.1:c.2537C>T | NP_001073285.1:p.Thr846Met | |
| NM_001079817.2:c.2537C>T | NP_001073285.1:p.Thr846Met | |
| XM_011527988.1:c.2651C>T | XP_011526290.1:p.Thr884Met | |
| XM_011527989.1:c.2615C>T | XP_011526291.1:p.Thr872Met | |
| XM_011527988.2:c.2573C>T | XP_011526290.2:p.Thr858Met | |
| XM_011527989.3:c.2537C>T | XP_011526291.2:p.Thr846Met | |
| NM_000208.4:c.2573C>T MANE Select | NP_000199.2:p.Thr858Met | |
| NM_001079817.3:c.2537C>T | NP_001073285.1:p.Thr846Met |