Linked Data
dbSNP Id:
rs3821236
gnomAD v2:
2-191902758-G-A
gnomAD v3:
2-191038032-G-A
gnomAD v4:
2-191038032-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.191038032G>A , CM000664.2:g.191038032G>A | GRCh38 |
| NC_000002.11:g.191902758G>A , CM000664.1:g.191902758G>A | GRCh37 |
| NC_000002.10:g.191611003G>A | NCBI36 |
| NG_012852.1:g.118168C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392320.7:c.1434+1167C>T MANE Select | ENSP00000376134.2:n.1434+1167C>T | |
| ENST00000358470.8:c.1434+1167C>T | ENSP00000351255.4:n.1434+1167C>T | |
| ENST00000392320.6:c.1434+1167C>T | ENSP00000376134.2:n.1434+1167C>T | |
| ENST00000470708.1:n.393+1167C>T | ||
| ENST00000495849.5:n.1502+1167C>T | ||
| NM_001243835.1:c.1434+1167C>T | NP_001230764.1:n.1434+1167C>T | |
| NM_003151.3:c.1434+1167C>T | NP_003142.1:n.1434+1167C>T | |
| XM_005246817.3:c.1461+1167C>T | XP_005246874.1:n.1461+1167C>T | |
| XM_006712719.2:c.1434+1167C>T | XP_006712782.1:n.1434+1167C>T | |
| XM_011511704.1:c.1461+1167C>T | XP_011510006.1:n.1461+1167C>T | |
| XM_011511705.1:c.1434+1167C>T | XP_011510007.1:n.1434+1167C>T | |
| XM_006712719.3:c.1434+1167C>T | XP_006712782.1:n.1434+1167C>T | |
| XM_011511705.2:c.1434+1167C>T | XP_011510007.1:n.1434+1167C>T | |
| NM_003151.4:c.1434+1167C>T MANE Select | NP_003142.1:n.1434+1167C>T | |
| NM_001243835.2:c.1434+1167C>T | NP_001230764.1:n.1434+1167C>T |