Linked Data
dbSNP Id:
rs185649317
gnomAD v2:
10-26505685-G-A
gnomAD v3:
10-26216756-G-A
gnomAD v4:
10-26216756-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.26216756G>A , CM000672.2:g.26216756G>A | GRCh38 |
| NC_000010.10:g.26505685G>A , CM000672.1:g.26505685G>A | GRCh37 |
| NC_000010.9:g.26545691G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000259271.7:c.-54G>A | ENSP00000259271.3:n.-54G>A | |
| ENST00000376261.7:c.-54G>A | ENSP00000365437.3:n.-54G>A | |
| ENST00000428517.2:c.-54G>A | ENSP00000390434.2:n.-54G>A | |
| NM_000818.2:c.-54G>A | NP_000809.1:n.-54G>A | |
| NM_001134366.1:c.-54G>A | NP_001127838.1:n.-54G>A | |
| NM_000818.3:c.-54G>A | NP_000809.1:n.-54G>A |