Linked Data
dbSNP Id:
rs964237951
gnomAD v2:
8-48872766-G-A
gnomAD v3:
8-47960206-G-A
gnomAD v4:
8-47960206-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47960206G>A , CM000670.2:g.47960206G>A | GRCh38 |
| NC_000008.10:g.48872766G>A , CM000670.1:g.48872766G>A | GRCh37 |
| NC_000008.9:g.49035319G>A | NCBI36 |
| NG_023435.1:g.4978C>T , LRG_162:g.4978C>T | |
| NG_032967.1:g.5004G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518221.5:c.-129G>A | ENSP00000430329.1:n.-129G>A | |
| NM_005914.3:c.-939G>A | NP_005905.2:n.-939G>A | |
| NM_182746.2:c.-823G>A | NP_877423.1:n.-823G>A |