Linked Data
dbSNP Id:
rs10912564
gnomAD v2:
1-173170618-C-T
gnomAD v3:
1-173201479-C-T
gnomAD v4:
1-173201479-C-T
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173201479C>T , CM000663.2:g.173201479C>T | GRCh38 |
| NC_000001.10:g.173170618C>T , CM000663.1:g.173170618C>T | GRCh37 |
| NC_000001.9:g.171437241C>T | NCBI36 |
| NG_011477.1:g.10854G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000281834.4:c.153+5545G>A MANE Select | ENSP00000281834.3:n.153+5545G>A | |
| ENST00000281834.3:c.153+5545G>A | ENSP00000281834.3:n.153+5545G>A | |
| ENST00000367718.5:c.3+3832G>A | ENSP00000356691.1:n.3+3832G>A | |
| ENST00000488053.1:n.414+3832G>A | ||
| NM_001297562.1:c.3+3832G>A | NP_001284491.1:n.3+3832G>A | |
| NM_003326.4:c.153+5545G>A | NP_003317.1:n.153+5545G>A | |
| XM_011509964.1:c.225+5545G>A | XP_011508266.1:n.225+5545G>A | |
| XM_011509964.2:c.441+5545G>A | XP_011508266.2:n.441+5545G>A | |
| XM_017002228.1:c.249+4008G>A | XP_016857717.1:n.249+4008G>A | |
| XM_017002229.1:c.186+5545G>A | XP_016857718.1:n.186+5545G>A | |
| XM_017002230.1:c.180+5545G>A | XP_016857719.1:n.180+5545G>A | |
| NM_003326.5:c.153+5545G>A MANE Select | NP_003317.1:n.153+5545G>A | |
| NM_001297562.2:c.3+3832G>A | NP_001284491.1:n.3+3832G>A |