Linked Data
dbSNP Id:
rs1004003989
gnomAD v2:
10-64380277-T-A
gnomAD v3:
10-62620517-T-A
gnomAD v4:
10-62620517-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.62620517T>A , CM000672.2:g.62620517T>A | GRCh38 |
| NC_000010.10:g.64380277T>A , CM000672.1:g.64380277T>A | GRCh37 |
| NC_000010.9:g.64050283T>A | NCBI36 |
| NG_021209.1:g.251362T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647733.1:c.982-2586T>A | ENSP00000502188.1:n.982-2586T>A | |
| ENST00000395251.5:c.-184-23225T>A | ENSP00000378672.1:n.-184-23225T>A | |
| ENST00000410046.7:c.982-2586T>A | ENSP00000387091.3:n.982-2586T>A | |
| NM_199451.2:c.982-2586T>A | NP_955523.1:n.982-2586T>A | |
| NM_199452.3:c.-184-23225T>A | NP_955524.3:n.-184-23225T>A | |
| NM_199451.3:c.982-2586T>A | NP_955523.1:n.982-2586T>A |