Linked Data
dbSNP Id:
rs16825455
gnomAD v2:
1-21837755-A-G
gnomAD v3:
1-21511262-A-G
gnomAD v4:
1-21511262-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21511262A>G , CM000663.2:g.21511262A>G | GRCh38 |
| NC_000001.10:g.21837755A>G , CM000663.1:g.21837755A>G | GRCh37 |
| NC_000001.9:g.21710342A>G | NCBI36 |
| NG_008940.1:g.6898A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374840.8:c.-105+1745A>G MANE Select | ENSP00000363973.3:n.-105+1745A>G | |
| ENST00000374840.7:c.-105+1745A>G | ENSP00000363973.3:n.-105+1745A>G | |
| ENST00000468526.1:n.121+1745A>G | ||
| ENST00000539907.5:c.-55+1745A>G | ENSP00000437674.1:n.-55+1745A>G | |
| ENST00000540617.5:c.-105+1745A>G | ENSP00000442672.1:n.-105+1745A>G | |
| NM_000478.4:c.-105+1745A>G | NP_000469.3:n.-105+1745A>G | |
| NM_001127501.2:c.-105+1745A>G | NP_001120973.2:n.-105+1745A>G | |
| NM_001177520.1:c.-55+1745A>G | NP_001170991.1:n.-55+1745A>G | |
| XM_005245818.1:c.-105+2151A>G | XP_005245875.1:n.-105+2151A>G | |
| XM_005245820.2:c.-105+1745A>G | XP_005245877.1:n.-105+1745A>G | |
| NM_000478.5:c.-105+1745A>G | NP_000469.3:n.-105+1745A>G | |
| NM_001127501.3:c.-105+1745A>G | NP_001120973.2:n.-105+1745A>G | |
| NM_001177520.2:c.-55+1745A>G | NP_001170991.1:n.-55+1745A>G | |
| NM_000478.6:c.-105+1745A>G MANE Select | NP_000469.3:n.-105+1745A>G | |
| NM_001127501.4:c.-105+1745A>G | NP_001120973.2:n.-105+1745A>G | |
| NM_001177520.3:c.-55+1745A>G | NP_001170991.1:n.-55+1745A>G | |
| NM_001369804.2:c.-105+2186A>G | NP_001356733.1:n.-105+2186A>G | |
| NM_001369805.2:c.-105+2151A>G | NP_001356734.1:n.-105+2151A>G |