Linked Data
dbSNP Id:
rs892317493
gnomAD v2:
9-124396366-C-T
gnomAD v3:
9-121634087-C-T
gnomAD v4:
9-121634087-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.121634087C>T , CM000671.2:g.121634087C>T | GRCh38 |
| NC_000009.11:g.124396366C>T , CM000671.1:g.124396366C>T | GRCh37 |
| NC_000009.10:g.123436187C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259371.7:c.41-44591C>T | ENSP00000259371.2:n.41-44591C>T | |
| ENST00000436835.6:c.41-44591C>T | ENSP00000409327.2:n.41-44591C>T | |
| ENST00000259371.6:c.41-44591C>T | ENSP00000259371.2:n.41-44591C>T | |
| ENST00000394340.7:c.41-44591C>T | ENSP00000377872.3:n.41-44591C>T | |
| ENST00000436835.5:c.-114-44591C>T | ENSP00000409327.1:n.-114-44591C>T | |
| ENST00000489314.1:n.359+35461C>T | ||
| NM_032552.3:c.41-44591C>T | NP_115941.2:n.41-44591C>T | |
| XM_005251721.1:c.41-44591C>T | XP_005251778.1:n.41-44591C>T | |
| XM_011518264.1:c.103+35461C>T | XP_011516566.1:n.103+35461C>T | |
| XM_011518265.1:c.103+35461C>T | XP_011516567.1:n.103+35461C>T | |
| XM_011518266.1:c.103+35461C>T | XP_011516568.1:n.103+35461C>T | |
| XM_011518267.1:c.103+35461C>T | XP_011516569.1:n.103+35461C>T | |
| XM_011518268.1:c.103+35461C>T | XP_011516570.1:n.103+35461C>T | |
| XM_011518264.3:c.103+35461C>T | XP_011516566.1:n.103+35461C>T | |
| XM_011518265.3:c.103+35461C>T | XP_011516567.1:n.103+35461C>T | |
| XM_011518266.2:c.103+35461C>T | XP_011516568.1:n.103+35461C>T | |
| XM_011518267.2:c.103+35461C>T | XP_011516569.1:n.103+35461C>T | |
| XM_024447418.1:c.-69+34321C>T | XP_024303186.1:n.-69+34321C>T | |
| NM_032552.4:c.41-44591C>T | NP_115941.2:n.41-44591C>T |