Linked Data
dbSNP Id:
rs184623618
gnomAD v2:
9-136135690-G-T
gnomAD v3:
9-133260287-G-T
gnomAD v4:
9-133260287-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133260287G>T , CM000671.2:g.133260287G>T | GRCh38 |
| NC_000009.11:g.136135690G>T , CM000671.1:g.136135690G>T | GRCh37 |
| NC_000009.10:g.135125511G>T | NCBI36 |
| NG_006669.1:g.17363C>A | |
| NG_006669.2:g.19928C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453660.4:n.186-421C>A | ||
| ENST00000647353.1:n.54-9135C>A | ||
| ENST00000651471.1:n.191-421C>A | ||
| ENST00000679909.1:c.28+14875C>A | ENSP00000506089.1:n.28+14875C>A | |
| ENST00000453660.3:n.168-421C>A | ||
| ENST00000538324.2:c.156-421C>A | ENSP00000483018.1:n.156-421C>A | |
| ENST00000611156.4:c.156-421C>A | ENSP00000483265.1:n.156-421C>A | |
| NM_020469.2:c.156-421C>A | NP_065202.2:n.156-421C>A | |
| NM_020469.3:c.156-421C>A | NP_065202.2:n.156-421C>A |