Linked Data
dbSNP Id:
rs1834631122
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133257832G>A , CM000671.2:g.133257832G>A | GRCh38 |
| NC_000009.11:g.136133219G>A , CM000671.1:g.136133219G>A | GRCh37 |
| NC_000009.10:g.135123040G>A | NCBI36 |
| NG_006669.1:g.19835C>T | |
| NG_006669.2:g.22383C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.269+265C>T | ||
| ENST00000647353.1:n.54-6680C>T | ||
| ENST00000651471.1:n.329+210C>T | ||
| ENST00000679909.1:c.28+17330C>T | ENSP00000506089.1:n.28+17330C>T | |
| ENST00000453660.3:n.251+265C>T | ||
| ENST00000538324.2:c.239+265C>T | ENSP00000483018.1:n.239+265C>T | |
| ENST00000611156.4:c.239+265C>T | ENSP00000483265.1:n.239+265C>T | |
| NM_020469.2:c.239+265C>T | NP_065202.2:n.239+265C>T | |
| NM_020469.3:c.239+265C>T | NP_065202.2:n.239+265C>T |