Linked Data
dbSNP Id:
rs368438527
ExAC:
9:136133548 G / A
gnomAD v2:
9-136133548-G-A
gnomAD v3:
9-133258158-G-A
gnomAD v4:
9-133258158-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133258158G>A , CM000671.2:g.133258158G>A | GRCh38 |
| NC_000009.11:g.136133548G>A , CM000671.1:g.136133548G>A | GRCh37 |
| NC_000009.10:g.135123369G>A | NCBI36 |
| NG_006669.1:g.19506C>T | |
| NG_006669.2:g.22057C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.234-26C>T | ||
| ENST00000647353.1:n.54-7006C>T | ||
| ENST00000651471.1:n.239-26C>T | ||
| ENST00000679909.1:c.28+17004C>T | ENSP00000506089.1:n.28+17004C>T | |
| ENST00000453660.3:n.216-26C>T | ||
| ENST00000538324.2:c.204-26C>T | ENSP00000483018.1:n.204-26C>T | |
| ENST00000611156.4:c.204-26C>T | ENSP00000483265.1:n.204-26C>T | |
| NM_020469.2:c.204-26C>T | NP_065202.2:n.204-26C>T | |
| NM_020469.3:c.204-26C>T | NP_065202.2:n.204-26C>T |