Linked Data
gnomAD v4:
9-133257620-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133257620C>A , CM000671.2:g.133257620C>A | GRCh38 |
| NC_000009.11:g.136133007C>A , CM000671.1:g.136133007C>A | GRCh37 |
| NC_000009.10:g.135122828C>A | NCBI36 |
| NG_006669.1:g.20047G>T | |
| NG_006669.2:g.22595G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.270-78G>T | ||
| ENST00000647353.1:n.54-6468G>T | ||
| ENST00000651471.1:n.329+422G>T | ||
| ENST00000679909.1:c.28+17542G>T | ENSP00000506089.1:n.28+17542G>T | |
| ENST00000453660.3:n.252-78G>T | ||
| ENST00000538324.2:c.240-78G>T | ENSP00000483018.1:n.240-78G>T | |
| ENST00000611156.4:c.240-78G>T | ENSP00000483265.1:n.240-78G>T | |
| NM_020469.2:c.240-78G>T | NP_065202.2:n.240-78G>T | |
| NM_020469.3:c.240-78G>T | NP_065202.2:n.240-78G>T |