Linked Data
dbSNP Id:
rs11163372
gnomAD v2:
1-82247248-C-T
gnomAD v3:
1-81781563-C-T
gnomAD v4:
1-81781563-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.81781563C>T , CM000663.2:g.81781563C>T | GRCh38 |
| NC_000001.10:g.82247248C>T , CM000663.1:g.82247248C>T | GRCh37 |
| NC_000001.9:g.82019836C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359929.7:c.-101+19711C>T | ENSP00000353006.2:n.-101+19711C>T | |
| ENST00000370721.5:c.-101+19711C>T | ENSP00000359756.1:n.-101+19711C>T | |
| ENST00000370723.5:c.-101+19711C>T | ENSP00000359758.1:n.-101+19711C>T | |
| ENST00000370725.5:c.-101+19711C>T | ENSP00000359760.1:n.-101+19711C>T | |
| ENST00000370727.5:c.-101+19711C>T | ENSP00000359762.1:n.-101+19711C>T | |
| ENST00000370728.5:c.-101+19711C>T | ENSP00000359763.1:n.-101+19711C>T | |
| ENST00000370730.5:c.-101+19711C>T | ENSP00000359765.1:n.-101+19711C>T | |
| ENST00000469377.6:n.608+19711C>T | ||
| NM_001297704.1:c.-101+19711C>T | NP_001284633.1:n.-101+19711C>T | |
| XM_011541093.1:c.-101+19711C>T | XP_011539395.1:n.-101+19711C>T | |
| NM_001297704.2:c.-101+19711C>T | NP_001284633.1:n.-101+19711C>T | |
| NM_001366003.1:c.-101+19711C>T | NP_001352932.1:n.-101+19711C>T | |
| NM_001366004.1:c.-101+19711C>T | NP_001352933.1:n.-101+19711C>T | |
| NM_001366008.1:c.-101+19711C>T | NP_001352937.1:n.-101+19711C>T | |
| XM_017000789.2:c.-101+19711C>T | XP_016856278.1:n.-101+19711C>T | |
| XM_017000797.2:c.-101+19711C>T | XP_016856286.1:n.-101+19711C>T | |
| XM_024454350.1:c.-101+19711C>T | XP_024310118.1:n.-101+19711C>T | |
| XM_024454355.1:c.-101+19711C>T | XP_024310123.1:n.-101+19711C>T | |
| XM_024454359.1:c.-101+19711C>T | XP_024310127.1:n.-101+19711C>T | |
| NM_001297704.3:c.-101+19711C>T | NP_001284633.1:n.-101+19711C>T | |
| NM_001366003.2:c.-101+19711C>T | NP_001352932.1:n.-101+19711C>T | |
| NM_001366004.2:c.-101+19711C>T | NP_001352933.1:n.-101+19711C>T | |
| NM_001366008.2:c.-101+19711C>T | NP_001352937.1:n.-101+19711C>T | |
| NM_001393349.1:c.-101+19711C>T | NP_001380278.1:n.-101+19711C>T |