Linked Data
dbSNP Id:
rs11742259
gnomAD v2:
5-156541933-T-C
gnomAD v3:
5-157114922-T-C
gnomAD v4:
5-157114922-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157114922T>C , CM000667.2:g.157114922T>C | GRCh38 |
| NC_000005.9:g.156541933T>C , CM000667.1:g.156541933T>C | GRCh37 |
| NC_000005.8:g.156474511T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524219.2:c.-293-7960A>G | ENSP00000430328.2:n.-293-7960A>G | |
| ENST00000524219.1:c.-293-7960A>G | ENSP00000430328.1:n.-293-7960A>G |