Linked Data
dbSNP Id:
rs11567685
gnomAD v2:
5-35856575-T-C
gnomAD v3:
5-35856473-T-C
gnomAD v4:
5-35856473-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35856473T>C , CM000667.2:g.35856473T>C | GRCh38 |
| NC_000005.9:g.35856575T>C , CM000667.1:g.35856575T>C | GRCh37 |
| NC_000005.8:g.35892332T>C | NCBI36 |
| NG_009567.1:g.4585T>C , LRG_74:g.4585T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000508941.5:c.-2+304T>C | ENSP00000426426.1:n.-2+304T>C | |
| ENST00000511031.1:n.216+3535T>C | ||
| ENST00000515665.1:c.-216T>C | ENSP00000425538.1:n.-216T>C | |
| XR_001742635.1:n.1534-2087A>G |