Linked Data
dbSNP Id:
rs1175839065
gnomAD v2:
9-136135699-G-T
gnomAD v3:
9-133260296-G-T
gnomAD v4:
9-133260296-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133260296G>T , CM000671.2:g.133260296G>T | GRCh38 |
| NC_000009.11:g.136135699G>T , CM000671.1:g.136135699G>T | GRCh37 |
| NC_000009.10:g.135125520G>T | NCBI36 |
| NG_006669.1:g.17354C>A | |
| NG_006669.2:g.19919C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453660.4:n.186-430C>A | ||
| ENST00000647353.1:n.54-9144C>A | ||
| ENST00000651471.1:n.191-430C>A | ||
| ENST00000679909.1:c.28+14866C>A | ENSP00000506089.1:n.28+14866C>A | |
| ENST00000453660.3:n.168-430C>A | ||
| ENST00000538324.2:c.156-430C>A | ENSP00000483018.1:n.156-430C>A | |
| ENST00000611156.4:c.156-430C>A | ENSP00000483265.1:n.156-430C>A | |
| NM_020469.2:c.156-430C>A | NP_065202.2:n.156-430C>A | |
| NM_020469.3:c.156-430C>A | NP_065202.2:n.156-430C>A |