Linked Data
dbSNP Id:
rs13333308
gnomAD v2:
16-11701649-T-C
gnomAD v3:
16-11607793-T-C
gnomAD v4:
16-11607793-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11607793T>C , CM000678.2:g.11607793T>C | GRCh38 |
| NC_000016.9:g.11701649T>C , CM000678.1:g.11701649T>C | GRCh37 |
| NC_000016.8:g.11609150T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000574848.5:c.85+25740A>G | ENSP00000459898.1:n.85+25740A>G | |
| ENST00000576036.5:c.-6+21330A>G | ENSP00000461667.1:n.-6+21330A>G | |
| ENST00000576334.1:c.85+25740A>G | ENSP00000458538.1:n.85+25740A>G | |
| XM_011522754.1:c.85+25740A>G | XP_011521056.1:n.85+25740A>G | |
| XM_011522754.3:c.85+25740A>G | XP_011521056.1:n.85+25740A>G | |
| XM_017023896.1:c.-6+21330A>G | XP_016879385.1:n.-6+21330A>G |