gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.100317981A>T , CM000670.2:g.100317981A>T | GRCh38 |
| NC_000008.10:g.101330209A>T , CM000670.1:g.101330209A>T | GRCh37 |
| NC_000008.9:g.101399385A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519527.5:c.-242-4609T>A | ENSP00000431077.1:n.-242-4609T>A | |
| ENST00000522182.1:n.112-4609T>A | ||
| ENST00000522369.5:c.-175-4609T>A | ENSP00000429841.1:n.-175-4609T>A | |
| ENST00000616528.1:c.-97-29710T>A | ENSP00000480369.1:n.-97-29710T>A | |
| NM_001280539.1:c.-175-4609T>A | NP_001267468.1:n.-175-4609T>A | |
| NM_001280539.2:c.-175-4609T>A | NP_001267468.1:n.-175-4609T>A |