Linked Data
dbSNP Id:
rs4293393
gnomAD v2:
16-20364588-A-G
gnomAD v3:
16-20353266-A-G
gnomAD v4:
16-20353266-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.20353266A>G , CM000678.2:g.20353266A>G | GRCh38 |
| NC_000016.9:g.20364588A>G , CM000678.1:g.20364588A>G | GRCh37 |
| NC_000016.8:g.20272089A>G | NCBI36 |
| NG_008151.1:g.4450T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000570689.5:c.-39-2490T>C | ENSP00000460548.1:n.-39-2490T>C | |
| XM_011545938.1:c.-39-2490T>C | XP_011544240.1:n.-39-2490T>C |