Linked Data
dbSNP Id:
rs377739569
ExAC:
9:136131756 C / A
gnomAD v2:
9-136131756-C-A
gnomAD v3:
9-133256369-C-A
gnomAD v4:
9-133256369-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133256369C>A , CM000671.2:g.133256369C>A | GRCh38 |
| NC_000009.11:g.136131756C>A , CM000671.1:g.136131756C>A | GRCh37 |
| NC_000009.10:g.135121577C>A | NCBI36 |
| NG_006669.1:g.21299G>T | |
| NG_006669.2:g.23847G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.404-13G>T | ||
| ENST00000647353.1:n.54-5217G>T | ||
| ENST00000651471.1:n.330-13G>T | ||
| ENST00000679909.1:c.28+18793G>T | ENSP00000506089.1:n.28+18793G>T | |
| ENST00000453660.3:n.386-13G>T | ||
| ENST00000538324.2:c.372-13G>T | ENSP00000483018.1:n.372-13G>T | |
| ENST00000611156.4:c.372-13G>T | ENSP00000483265.1:n.372-13G>T | |
| NM_020469.2:c.375-13G>T | NP_065202.2:n.375-13G>T | |
| NM_020469.3:c.375-13G>T | NP_065202.2:n.375-13G>T |