Linked Data
dbSNP Id:
rs13015447
gnomAD v2:
2-167377978-A-C
gnomAD v3:
2-166521468-A-C
gnomAD v4:
2-166521468-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166521468A>C , CM000664.2:g.166521468A>C | GRCh38 |
| NC_000002.11:g.167377978A>C , CM000664.1:g.167377978A>C | GRCh37 |
| NC_000002.10:g.167086224A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650747.1:c.-14-43758T>G | ENSP00000498959.1:n.-14-43758T>G | |
| XR_923553.1:n.1142+20708A>C | ||
| XR_923554.1:n.1425+20708A>C |