Linked Data
dbSNP Id:
rs557530257
ExAC:
9:136131779 C / A
gnomAD v2:
9-136131779-C-A
gnomAD v3:
9-133256392-C-A
gnomAD v4:
9-133256392-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133256392C>A , CM000671.2:g.133256392C>A | GRCh38 |
| NC_000009.11:g.136131779C>A , CM000671.1:g.136131779C>A | GRCh37 |
| NC_000009.10:g.135121600C>A | NCBI36 |
| NG_006669.1:g.21276G>T | |
| NG_006669.2:g.23824G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.404-36G>T | ||
| ENST00000647353.1:n.54-5240G>T | ||
| ENST00000651471.1:n.330-36G>T | ||
| ENST00000679909.1:c.28+18770G>T | ENSP00000506089.1:n.28+18770G>T | |
| ENST00000453660.3:n.386-36G>T | ||
| ENST00000538324.2:c.372-36G>T | ENSP00000483018.1:n.372-36G>T | |
| ENST00000611156.4:c.372-36G>T | ENSP00000483265.1:n.372-36G>T | |
| NM_020469.2:c.375-36G>T | NP_065202.2:n.375-36G>T | |
| NM_020469.3:c.375-36G>T | NP_065202.2:n.375-36G>T |