Linked Data
dbSNP Id:
rs11250464
gnomAD v2:
10-1406364-T-C
gnomAD v3:
10-1364169-T-C
gnomAD v4:
10-1364169-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.1364169T>C , CM000672.2:g.1364169T>C | GRCh38 |
| NC_000010.10:g.1406364T>C , CM000672.1:g.1406364T>C | GRCh37 |
| NC_000010.9:g.1396364T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381312.6:c.188-252A>G MANE Select | ENSP00000370713.1:n.188-252A>G | |
| ENST00000381312.5:c.188-252A>G | ENSP00000370713.1:n.188-252A>G | |
| NM_018702.3:c.188-252A>G | NP_061172.1:n.188-252A>G | |
| XR_930468.1:n.536-252A>G | ||
| NM_018702.4:c.188-252A>G MANE Select | NP_061172.1:n.188-252A>G |