gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001962 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.0000183 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35039214C>T , CM000681.2:g.35039214C>T | GRCh38 |
| NC_000019.9:g.35530118C>T , CM000681.1:g.35530118C>T | GRCh37 |
| NC_000019.8:g.40221958C>T | NCBI36 |
| NG_013359.1:g.13527C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262631.11:c.546C>T MANE Select | ENSP00000262631.3:p.Tyr182= | |
| ENST00000596348.2:c.447C>T | ENSP00000492247.1:p.Tyr149= | |
| ENST00000602150.2:n.2316C>T | ||
| ENST00000638536.1:c.546C>T | ENSP00000492022.1:p.Tyr182= | |
| ENST00000639260.1:n.1359C>T | ||
| ENST00000675741.1:c.573C>T | ENSP00000502395.1:p.Tyr191= | |
| ENST00000676410.1:c.*264C>T | ENSP00000502717.1:n.*264C>T | |
| ENST00000262631.9:c.546C>T | ENSP00000262631.3:p.Tyr182= | |
| ENST00000595652.5:c.333C>T | ENSP00000468848.1:p.Tyr111= | |
| ENST00000596348.1:n.555C>T | ||
| ENST00000602150.1:n.2316C>T | ||
| NM_001037.4:c.546C>T | NP_001028.1:p.Tyr182= | |
| XM_005259144.1:c.447C>T | XP_005259201.1:p.Tyr149= | |
| NM_001321605.1:c.447C>T | NP_001308534.1:p.Tyr149= | |
| NM_001037.5:c.546C>T MANE Select | NP_001028.1:p.Tyr182= | |
| NM_001321605.2:c.447C>T | NP_001308534.1:p.Tyr149= |