Linked Data
dbSNP Id:
rs1077514
gnomAD v2:
1-23766233-C-T
gnomAD v3:
1-23439740-C-T
gnomAD v4:
1-23439740-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23439740C>T , CM000663.2:g.23439740C>T | GRCh38 |
| NC_000001.10:g.23766233C>T , CM000663.1:g.23766233C>T | GRCh37 |
| NC_000001.9:g.23638820C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000711425.1:c.*596-510G>A | ENSP00000518742.1:n.*596-510G>A | |
| ENST00000711426.1:c.1066-510G>A | ENSP00000518743.1:n.1066-510G>A | |
| ENST00000711427.1:c.552-510G>A | ENSP00000518744.1:n.552-510G>A | |
| ENST00000336689.8:c.945-510G>A MANE Select | ENSP00000338769.3:n.945-510G>A | |
| ENST00000336689.7:c.945-510G>A | ENSP00000338769.3:n.945-510G>A | |
| ENST00000437606.6:c.918-510G>A | ENSP00000408826.2:n.918-510G>A | |
| ENST00000475814.5:c.360-906G>A | ENSP00000436439.1:n.360-906G>A | |
| ENST00000492982.6:c.*779-510G>A | ENSP00000435858.1:n.*779-510G>A | |
| ENST00000618240.4:c.527+2819G>A | ENSP00000483740.1:n.527+2819G>A | |
| NM_001143778.1:c.918-510G>A | NP_001137250.1:n.918-510G>A | |
| NM_017707.3:c.945-510G>A | NP_060177.2:n.945-510G>A | |
| XM_011541754.1:c.1002-510G>A | XP_011540056.1:n.1002-510G>A | |
| XM_011541755.1:c.951-510G>A | XP_011540057.1:n.951-510G>A | |
| XM_011541756.1:c.1008-510G>A | XP_011540058.1:n.1008-510G>A | |
| XM_011541757.1:c.1002-510G>A | XP_011540059.1:n.1002-510G>A | |
| XM_011541758.1:c.873-510G>A | XP_011540060.1:n.873-510G>A | |
| XM_011541755.2:c.951-510G>A | XP_011540057.1:n.951-510G>A | |
| XM_017001685.2:c.945-510G>A | XP_016857174.1:n.945-510G>A | |
| XM_017001686.2:c.951-510G>A | XP_016857175.1:n.951-510G>A | |
| XM_017001687.1:c.885-510G>A | XP_016857176.1:n.885-510G>A | |
| XM_017001688.2:c.552-510G>A | XP_016857177.1:n.552-510G>A | |
| XM_017001689.1:c.558-510G>A | XP_016857178.1:n.558-510G>A | |
| NM_017707.4:c.945-510G>A MANE Select | NP_060177.2:n.945-510G>A | |
| NM_001143778.2:c.918-510G>A | NP_001137250.1:n.918-510G>A |