Revel Score:
ENST00000310018 (MANE Select)
0.983
ENST00000393054
0.983
ENST00000353492
0.983
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00024821 (AMR)
Genomes Max Group AF
0.00005293 (AMR)
Exomes Max Group AF
0.00027751 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.138747514C>A , CM000669.2:g.138747514C>A | GRCh38 |
| NC_000007.13:g.138432259C>A , CM000669.1:g.138432259C>A | GRCh37 |
| NC_000007.12:g.138082799C>A | NCBI36 |
| NG_008145.1:g.55683G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310018.7:c.1231G>T MANE Select | ENSP00000308122.2:p.Asp411Tyr | |
| ENST00000478480.2:c.457G>T | ENSP00000495261.1:p.Asp153Tyr | |
| ENST00000644341.1:c.457G>T | ENSP00000495642.1:p.Asp153Tyr | |
| ENST00000645515.1:c.1231G>T | ENSP00000496421.1:p.Asp411Tyr | |
| ENST00000647427.1:c.124G>T | ENSP00000496259.1:p.Asp42Tyr | |
| ENST00000310018.6:c.1231G>T | ENSP00000308122.2:p.Asp411Tyr | |
| ENST00000353492.4:c.1231G>T | ENSP00000253856.6:p.Asp411Tyr | |
| ENST00000393054.5:c.1231G>T | ENSP00000376774.1:p.Asp411Tyr | |
| ENST00000471085.1:n.162G>T | ||
| ENST00000478480.1:n.718G>T | ||
| NM_020632.2:c.1231G>T | NP_065683.2:p.Asp411Tyr | |
| NM_130840.2:c.1231G>T | NP_570855.2:p.Asp411Tyr | |
| NM_130841.2:c.1231G>T | NP_570856.2:p.Asp411Tyr | |
| XM_005250393.1:c.1231G>T | XP_005250450.1:p.Asp411Tyr | |
| XM_005250394.2:c.1231G>T | XP_005250451.1:p.Asp411Tyr | |
| XM_005250394.3:c.1231G>T | XP_005250451.1:p.Asp411Tyr | |
| NM_020632.3:c.1231G>T MANE Select | NP_065683.2:p.Asp411Tyr | |
| NM_130840.3:c.1231G>T | NP_570855.2:p.Asp411Tyr | |
| NM_130841.3:c.1231G>T | NP_570856.2:p.Asp411Tyr |