Linked Data
dbSNP Id:
rs1808536
gnomAD v2:
19-8441857-A-G
gnomAD v3:
19-8376973-A-G
gnomAD v4:
19-8376973-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8376973A>G , CM000681.2:g.8376973A>G | GRCh38 |
| NC_000019.9:g.8441857A>G , CM000681.1:g.8441857A>G | GRCh37 |
| NC_000019.8:g.8347857A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351593.9:c.-88+68033T>C (ELAVL1) | ENSP00000264073.6:n.-88+68033T>C | |
| NR_038237.1:n.778T>C (RAB11B-AS1) |