Linked Data
dbSNP Id:
rs1485516756
gnomAD v2:
6-35791556-A-T
gnomAD v3:
6-35823779-A-T
gnomAD v4:
6-35823779-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35823779A>T , CM000668.2:g.35823779A>T | GRCh38 |
| NC_000006.11:g.35791556A>T , CM000668.1:g.35791556A>T | GRCh37 |
| NC_000006.10:g.35899534A>T | NCBI36 |
| NG_012184.1:g.23486A>T | |
| NG_012184.2:g.23486A>T | |
| NG_012184.3:g.31574A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360215.3:c.*814A>T MANE Select | ENSP00000353346.1:n.*814A>T | |
| ENST00000496656.2:n.578+3959A>T | ||
| ENST00000651132.1:c.*814A>T | ENSP00000498322.1:n.*814A>T | |
| ENST00000651676.1:c.*16+4316A>T | ENSP00000498699.1:n.*16+4316A>T | |
| ENST00000651994.1:c.*894A>T | ENSP00000498310.1:n.*894A>T | |
| ENST00000652718.1:c.508+4316A>T | ENSP00000498866.1:n.508+4316A>T | |
| ENST00000360215.2:c.*814A>T | ENSP00000353346.1:n.*814A>T | |
| ENST00000496656.1:n.812+3959A>T | ||
| NM_182548.3:c.*814A>T | NP_872354.1:n.*814A>T | |
| NM_182548.4:c.*814A>T MANE Select | NP_872354.1:n.*814A>T |