Linked Data
dbSNP Id:
rs1452097752
gnomAD v2:
9-136137107-C-A
gnomAD v3:
9-133261704-C-A
gnomAD v4:
9-133261704-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133261704C>A , CM000671.2:g.133261704C>A | GRCh38 |
| NC_000009.11:g.136137107C>A , CM000671.1:g.136137107C>A | GRCh37 |
| NC_000009.10:g.135126928C>A | NCBI36 |
| NG_006669.1:g.15946G>T | |
| NG_006669.2:g.18511G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.129-330G>T | ||
| ENST00000647353.1:n.54-10552G>T | ||
| ENST00000651471.1:n.134-330G>T | ||
| ENST00000679909.1:c.28+13458G>T | ENSP00000506089.1:n.28+13458G>T | |
| ENST00000453660.3:n.111-330G>T | ||
| ENST00000538324.2:c.99-330G>T | ENSP00000483018.1:n.99-330G>T | |
| ENST00000611156.4:c.99-330G>T | ENSP00000483265.1:n.99-330G>T | |
| NM_020469.2:c.99-330G>T | NP_065202.2:n.99-330G>T | |
| NM_020469.3:c.99-330G>T | NP_065202.2:n.99-330G>T |