Linked Data
dbSNP Id:
rs11830103
gnomAD v2:
12-123823546-A-G
gnomAD v3:
12-123338999-A-G
gnomAD v4:
12-123338999-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123338999A>G , CM000674.2:g.123338999A>G | GRCh38 |
| NC_000012.11:g.123823546A>G , CM000674.1:g.123823546A>G | GRCh37 |
| NC_000012.10:g.122389499A>G | NCBI36 |
| NG_052874.1:g.31211T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000602398.3:c.651+1989T>C MANE Select | ENSP00000473665.1:n.651+1989T>C | |
| ENST00000267176.8:c.648+1989T>C | ENSP00000267176.4:n.648+1989T>C | |
| ENST00000420886.6:c.651+1989T>C | ENSP00000387361.2:n.651+1989T>C | |
| ENST00000602398.2:c.651+1989T>C | ENSP00000473665.1:n.651+1989T>C | |
| NM_001167856.1:c.651+1989T>C | NP_001161328.1:n.651+1989T>C | |
| NM_018183.3:c.648+1989T>C | NP_060653.3:n.648+1989T>C | |
| XM_005253572.2:c.651+1989T>C | XP_005253629.1:n.651+1989T>C | |
| XM_005253573.3:c.651+1989T>C | XP_005253630.1:n.651+1989T>C | |
| XM_005253575.2:c.648+1989T>C | XP_005253632.1:n.648+1989T>C | |
| XM_005253576.2:c.648+1989T>C | XP_005253633.1:n.648+1989T>C | |
| XM_006719473.2:c.651+1989T>C | XP_006719536.1:n.651+1989T>C | |
| XM_006719474.2:c.651+1989T>C | XP_006719537.1:n.651+1989T>C | |
| XM_011538533.1:c.648+1989T>C | XP_011536835.1:n.648+1989T>C | |
| XM_011538534.1:c.546+1989T>C | XP_011536836.1:n.546+1989T>C | |
| XM_011538535.1:c.543+1989T>C | XP_011536837.1:n.543+1989T>C | |
| NM_001167856.2:c.651+1989T>C | NP_001161328.1:n.651+1989T>C | |
| NM_018183.4:c.648+1989T>C | NP_060653.3:n.648+1989T>C | |
| NM_001167856.3:c.651+1989T>C MANE Select | NP_001161328.1:n.651+1989T>C | |
| NM_018183.5:c.648+1989T>C | NP_060653.3:n.648+1989T>C |