Linked Data
dbSNP Id:
rs11160533
gnomAD v2:
14-100075773-C-T
gnomAD v3:
14-99609436-C-T
gnomAD v4:
14-99609436-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.99609436C>T , CM000676.2:g.99609436C>T | GRCh38 |
| NC_000014.8:g.100075773C>T , CM000676.1:g.100075773C>T | GRCh37 |
| NC_000014.7:g.99145526C>T | NCBI36 |
| NG_051108.1:g.9961C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_006720277.2:c.-199+4821C>T | XP_006720340.1:n.-199+4821C>T | |
| XM_011537236.1:c.-287+4821C>T | XP_011535538.1:n.-287+4821C>T | |
| NM_001329411.1:c.-287+4821C>T | NP_001316340.1:n.-287+4821C>T | |
| XM_006720277.3:c.-199+4821C>T | XP_006720340.1:n.-199+4821C>T | |
| XM_011537236.2:c.-287+4821C>T | XP_011535538.1:n.-287+4821C>T | |
| NM_001329411.2:c.-287+4821C>T | NP_001316340.1:n.-287+4821C>T |