gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.18783784 (NFE)
Genomes Max Group AF
0.18783784 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102881008A>T , CM000666.2:g.102881008A>T | GRCh38 |
| NC_000004.11:g.103802165A>T , CM000666.1:g.103802165A>T | GRCh37 |
| NG_008636.2:g.17031A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273986.10:c.104-4208A>T MANE Select | ENSP00000273986.4:n.104-4208A>T | |
| ENST00000643561.1:c.*86-4208A>T | ENSP00000494068.1:n.*86-4208A>T | |
| ENST00000646632.1:c.104-1784A>T | ENSP00000494257.1:n.104-1784A>T | |
| ENST00000273986.8:c.104-4208A>T | ENSP00000273986.4:n.104-4208A>T | |
| ENST00000503643.1:c.134-4208A>T | ENSP00000423716.1:n.134-4208A>T | |
| ENST00000574446.1:c.104-1763A>T | ENSP00000458976.1:n.104-1763A>T | |
| NM_001008388.4:c.104-4208A>T | NP_001008389.1:n.104-4208A>T | |
| NM_001008388.5:c.104-4208A>T MANE Select | NP_001008389.1:n.104-4208A>T |