Linked Data
dbSNP Id:
rs263232
gnomAD v2:
8-131808169-C-A
gnomAD v3:
8-130795923-C-A
gnomAD v4:
8-130795923-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.130795923C>A , CM000670.2:g.130795923C>A | GRCh38 |
| NC_000008.10:g.131808169C>A , CM000670.1:g.131808169C>A | GRCh37 |
| NC_000008.9:g.131877351C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286355.10:c.3060+4503G>T MANE Select | ENSP00000286355.5:n.3060+4503G>T | |
| ENST00000286355.9:c.3060+4503G>T | ENSP00000286355.5:n.3060+4503G>T | |
| ENST00000377928.7:c.2667+4503G>T | ENSP00000367161.3:n.2667+4503G>T | |
| NM_001115.2:c.3060+4503G>T | NP_001106.1:n.3060+4503G>T | |
| XM_005250769.2:c.2970+4503G>T | XP_005250826.1:n.2970+4503G>T | |
| XM_006716501.2:c.2862+4503G>T | XP_006716564.1:n.2862+4503G>T | |
| XM_005250769.3:c.2970+4503G>T | XP_005250826.1:n.2970+4503G>T | |
| XM_006716501.3:c.2862+4503G>T | XP_006716564.1:n.2862+4503G>T | |
| XM_017013006.1:c.2772+4503G>T | XP_016868495.1:n.2772+4503G>T | |
| NM_001115.3:c.3060+4503G>T MANE Select | NP_001106.1:n.3060+4503G>T |