Linked Data
dbSNP Id:
rs12585014
gnomAD v2:
13-43140559-G-A
gnomAD v3:
13-42566423-G-A
gnomAD v4:
13-42566423-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.42566423G>A , CM000675.2:g.42566423G>A | GRCh38 |
| NC_000013.10:g.43140559G>A , CM000675.1:g.43140559G>A | GRCh37 |
| NC_000013.9:g.42038559G>A | NCBI36 |
| NG_008990.1:g.8688G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358545.6:c.-301-198G>A | ENSP00000351347.2:n.-301-198G>A | |
| NM_033012.3:c.-301-198G>A | NP_143026.1:n.-301-198G>A | |
| NM_033012.4:c.-301-198G>A | NP_143026.1:n.-301-198G>A |