gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002549 (AFR)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00000989 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201047211G>A , CM000663.2:g.201047211G>A | GRCh38 |
| NC_000001.10:g.201016339G>A , CM000663.1:g.201016339G>A | GRCh37 |
| NC_000001.9:g.199282962G>A | NCBI36 |
| NG_009816.1:g.70356C>T | |
| NG_009816.2:g.70356C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362061.4:c.4572C>T MANE Select | ENSP00000355192.3:p.Tyr1524= | |
| ENST00000679417.1:c.*3735C>T | ENSP00000506706.1:n.*3735C>T | |
| ENST00000680051.1:n.1698C>T | ||
| ENST00000680059.1:c.*2090C>T | ENSP00000504944.1:n.*2090C>T | |
| ENST00000681078.1:c.*347C>T | ENSP00000506645.1:n.*347C>T | |
| ENST00000681190.1:c.*754C>T | ENSP00000506428.1:n.*754C>T | |
| ENST00000681874.1:c.4512C>T | ENSP00000505162.1:p.Tyr1504= | |
| ENST00000362061.3:c.4572C>T | ENSP00000355192.3:p.Tyr1524= | |
| ENST00000367338.7:c.4515C>T | ENSP00000356307.3:p.Tyr1505= | |
| NM_000069.2:c.4572C>T | NP_000060.2:p.Tyr1524= | |
| XM_005245478.2:c.4515C>T | XP_005245535.1:p.Tyr1505= | |
| XM_005245478.3:c.4515C>T | XP_005245535.1:p.Tyr1505= | |
| NM_000069.3:c.4572C>T MANE Select | NP_000060.2:p.Tyr1524= |