Linked Data
dbSNP Id:
rs111033850
gnomAD v2:
17-76356213-A-G
gnomAD v3:
17-78360132-A-G
gnomAD v4:
17-78360132-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78360132A>G , CM000679.2:g.78360132A>G | GRCh38 |
| NC_000017.10:g.76356213A>G , CM000679.1:g.76356213A>G | GRCh37 |
| NC_000017.9:g.73867808A>G | NCBI36 |
| NG_016851.1:g.4946T>C , LRG_619:g.4946T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_001378933.1:c.-89+724T>C | NP_001365862.1:n.-89+724T>C |