Linked Data
dbSNP Id:
rs782556804
ExAC:
9:136131569 G / A
gnomAD v2:
9-136131569-G-A
gnomAD v4:
9-133256182-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133256182G>A , CM000671.2:g.133256182G>A | GRCh38 |
| NC_000009.11:g.136131569G>A , CM000671.1:g.136131569G>A | GRCh37 |
| NC_000009.10:g.135121390G>A | NCBI36 |
| NG_006669.1:g.21486C>T | |
| NG_006669.2:g.24034C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453660.4:n.578C>T | ||
| ENST00000647353.1:n.54-5030C>T | ||
| ENST00000651471.1:n.504C>T | ||
| ENST00000679909.1:c.28+18980C>T | ENSP00000506089.1:n.28+18980C>T | |
| ENST00000453660.3:n.560C>T | ||
| ENST00000538324.2:c.546C>T | ENSP00000483018.1:p.Asp182= | |
| ENST00000611156.4:c.546C>T | ENSP00000483265.1:p.Asp182= | |
| NM_020469.2:c.549C>T | NP_065202.2:p.Asp183= | |
| NM_020469.3:c.549C>T | NP_065202.2:p.Asp183= |