gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00041711 (SAS)
Genomes Max Group AF
0.00053957 (SAS)
Exomes Max Group AF
0.0003764 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2775977C>T , CM000673.2:g.2775977C>T | GRCh38 |
| NC_000011.9:g.2797207C>T , CM000673.1:g.2797207C>T | GRCh37 |
| NC_000011.8:g.2753783C>T | NCBI36 |
| NG_008935.1:g.335987C>T , LRG_287:g.335987C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1251C>T | ENSP00000434560.2:p.Tyr417= | |
| ENST00000646564.2:c.1068C>T | ENSP00000495806.2:p.Tyr356= | |
| ENST00000155840.12:c.1608C>T MANE Select | ENSP00000155840.2:p.Tyr536= | |
| ENST00000335475.6:c.1227C>T | ENSP00000334497.5:p.Tyr409= | |
| ENST00000646564.1:c.714C>T | ENSP00000495806.1:p.Tyr238= | |
| ENST00000155840.9:c.1608C>T | ENSP00000155840.2:p.Tyr536= | |
| ENST00000335475.5:c.1227C>T | ENSP00000334497.5:p.Tyr409= | |
| NM_000218.2:c.1608C>T , LRG_287t1:c.1608C>T | NP_000209.2:p.Tyr536= | |
| NM_181798.1:c.1227C>T , LRG_287t2:c.1227C>T | NP_861463.1:p.Tyr409= | |
| NM_000218.3:c.1608C>T MANE Select | NP_000209.2:p.Tyr536= |