Linked Data
dbSNP Id:
rs1253857886
gnomAD v2:
16-50103771-C-T
gnomAD v3:
16-50069860-C-T
gnomAD v4:
16-50069860-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.50069860C>T , CM000678.2:g.50069860C>T | GRCh38 |
| NC_000016.9:g.50103771C>T , CM000678.1:g.50103771C>T | GRCh37 |
| NC_000016.8:g.48661272C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685571.1:n.639-318C>T | ||
| ENST00000689598.1:c.231-318C>T | ||
| ENST00000690683.1:n.476+3321C>T | ||
| ENST00000691270.1:n.252-318C>T | ||
| ENST00000691604.1:n.383-318C>T | ||
| ENST00000692328.1:c.400-318C>T | ENSP00000510114.1:n.400-318C>T | |
| ENST00000693352.1:c.237-318C>T | ||
| ENST00000693599.1:n.117+3321C>T | ||
| ENST00000299192.8:c.400-318C>T MANE Select | ENSP00000299192.7:n.400-318C>T | |
| ENST00000299192.7:c.400-318C>T | ENSP00000299192.7:n.400-318C>T | |
| ENST00000561819.1:n.408-318C>T | ||
| NM_182922.2:c.400-318C>T | NP_891552.1:n.400-318C>T | |
| XM_005256013.1:c.142-318C>T | XP_005256070.1:n.142-318C>T | |
| XM_011523188.1:c.49-318C>T | XP_011521490.1:n.49-318C>T | |
| XM_011523189.1:c.-61-284C>T | XP_011521491.1:n.-61-284C>T | |
| NM_001329729.1:c.49-318C>T | NP_001316658.1:n.49-318C>T | |
| NM_001329730.1:c.49-318C>T | NP_001316659.1:n.49-318C>T | |
| NM_001329731.1:c.-184-318C>T | NP_001316660.1:n.-184-318C>T | |
| NM_182922.3:c.400-318C>T | NP_891552.1:n.400-318C>T | |
| NR_138092.1:n.591-318C>T | ||
| NR_138093.1:n.591-318C>T | ||
| XM_005256013.2:c.142-318C>T | XP_005256070.1:n.142-318C>T | |
| XM_017023386.1:c.-184-318C>T | XP_016878875.1:n.-184-318C>T | |
| XR_002957828.1:n.591-318C>T | ||
| NM_182922.4:c.400-318C>T MANE Select | NP_891552.1:n.400-318C>T | |
| NM_001329729.2:c.49-318C>T | NP_001316658.1:n.49-318C>T | |
| NM_001329730.2:c.49-318C>T | NP_001316659.1:n.49-318C>T | |
| NM_001329731.2:c.-184-318C>T | NP_001316660.1:n.-184-318C>T | |
| NR_138092.2:n.562-318C>T | ||
| NR_138093.2:n.562-318C>T |