Linked Data
dbSNP Id:
rs2073828
gnomAD v2:
9-136137140-G-A
gnomAD v3:
9-133261737-G-A
gnomAD v4:
9-133261737-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133261737G>A , CM000671.2:g.133261737G>A | GRCh38 |
| NC_000009.11:g.136137140G>A , CM000671.1:g.136137140G>A | GRCh37 |
| NC_000009.10:g.135126961G>A | NCBI36 |
| NG_006669.1:g.15913C>T | |
| NG_006669.2:g.18478C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453660.4:n.129-363C>T | ||
| ENST00000647353.1:n.54-10585C>T | ||
| ENST00000651471.1:n.134-363C>T | ||
| ENST00000679909.1:c.28+13425C>T | ENSP00000506089.1:n.28+13425C>T | |
| ENST00000453660.3:n.111-363C>T | ||
| ENST00000538324.2:c.99-363C>T | ENSP00000483018.1:n.99-363C>T | |
| ENST00000611156.4:c.99-363C>T | ENSP00000483265.1:n.99-363C>T | |
| NM_020469.2:c.99-363C>T | NP_065202.2:n.99-363C>T | |
| NM_020469.3:c.99-363C>T | NP_065202.2:n.99-363C>T |