Linked Data
gnomAD v4:
9-133257970-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133257970C>A , CM000671.2:g.133257970C>A | GRCh38 |
| NC_000009.11:g.136133357C>A , CM000671.1:g.136133357C>A | GRCh37 |
| NC_000009.10:g.135123178C>A | NCBI36 |
| NG_006669.1:g.19697G>T | |
| NG_006669.2:g.22245G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.269+127G>T | ||
| ENST00000647353.1:n.54-6818G>T | ||
| ENST00000651471.1:n.329+72G>T | ||
| ENST00000679909.1:c.28+17192G>T | ENSP00000506089.1:n.28+17192G>T | |
| ENST00000453660.3:n.251+127G>T | ||
| ENST00000538324.2:c.239+127G>T | ENSP00000483018.1:n.239+127G>T | |
| ENST00000611156.4:c.239+127G>T | ENSP00000483265.1:n.239+127G>T | |
| NM_020469.2:c.239+127G>T | NP_065202.2:n.239+127G>T | |
| NM_020469.3:c.239+127G>T | NP_065202.2:n.239+127G>T |