Linked Data
dbSNP Id:
rs9929635
gnomAD v2:
16-79100559-A-T
gnomAD v3:
16-79066662-A-T
gnomAD v4:
16-79066662-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.79066662A>T , CM000678.2:g.79066662A>T | GRCh38 |
| NC_000016.9:g.79100559A>T , CM000678.1:g.79100559A>T | GRCh37 |
| NC_000016.8:g.77658060A>T | NCBI36 |
| NG_011698.1:g.972009A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683929.1:c.*170+26417A>T | ENSP00000507689.1:n.*170+26417A>T | |
| ENST00000566780.6:c.1057-144946A>T MANE Select | ENSP00000457230.1:n.1057-144946A>T | |
| ENST00000402655.6:c.410-144946A>T | ENSP00000384238.2:n.410-144946A>T | |
| ENST00000406884.6:c.517-144946A>T | ENSP00000384495.2:n.517-144946A>T | |
| ENST00000539474.6:c.486-144946A>T | ENSP00000445210.2:n.486-144946A>T | |
| ENST00000566780.5:c.1057-144946A>T | ENSP00000457230.1:n.1057-144946A>T | |
| ENST00000569332.5:c.*854-144946A>T | ENSP00000454788.1:n.*854-144946A>T | |
| NM_001291997.1:c.718-144946A>T | NP_001278926.1:n.718-144946A>T | |
| NM_016373.3:c.1057-144946A>T | NP_057457.1:n.1057-144946A>T | |
| XM_011523100.1:c.1153-144946A>T | XP_011521402.1:n.1153-144946A>T | |
| XM_011523103.1:c.*29-144946A>T | XP_011521405.1:n.*29-144946A>T | |
| XM_011523103.3:c.*29-144946A>T | XP_011521405.1:n.*29-144946A>T | |
| XM_017023279.1:c.143-144946A>T | XP_016878768.1:n.143-144946A>T | |
| NM_016373.4:c.1057-144946A>T MANE Select | NP_057457.1:n.1057-144946A>T | |
| NM_001291997.2:c.718-144946A>T | NP_001278926.1:n.718-144946A>T |