Linked Data
dbSNP Id:
rs11667918
gnomAD v2:
19-17232499-C-T
gnomAD v3:
19-17121689-C-T
gnomAD v4:
19-17121689-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17121689C>T , CM000681.2:g.17121689C>T | GRCh38 |
| NC_000019.9:g.17232499C>T , CM000681.1:g.17232499C>T | GRCh37 |
| NC_000019.8:g.17093499C>T | NCBI36 |
| NG_013068.1:g.50909C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682292.1:c.840+19132C>T MANE Select | ENSP00000507803.1:n.840+19132C>T | |
| ENST00000397274.6:c.840+19132C>T | ENSP00000380444.2:n.840+19132C>T | |
| ENST00000594824.5:c.840+19132C>T | ENSP00000471367.1:n.840+19132C>T | |
| ENST00000595618.5:c.840+19132C>T | ENSP00000471457.1:n.840+19132C>T | |
| ENST00000595641.5:c.840+19132C>T | ENSP00000472915.1:n.840+19132C>T | |
| NM_001130065.1:c.840+19132C>T | NP_001123537.1:n.840+19132C>T | |
| NM_004145.3:c.840+19132C>T | NP_004136.2:n.840+19132C>T | |
| XM_011528029.1:c.840+19132C>T | XP_011526331.1:n.840+19132C>T | |
| XM_011528030.1:c.840+19132C>T | XP_011526332.1:n.840+19132C>T | |
| XM_011528031.1:c.840+19132C>T | XP_011526333.1:n.840+19132C>T | |
| XM_011528032.1:c.840+19132C>T | XP_011526334.1:n.840+19132C>T | |
| XM_011528033.1:c.840+19132C>T | XP_011526335.1:n.840+19132C>T | |
| XM_011528034.1:c.840+19132C>T | XP_011526336.1:n.840+19132C>T | |
| XM_011528035.1:c.840+19132C>T | XP_011526337.1:n.840+19132C>T | |
| XM_011528036.1:c.840+19132C>T | XP_011526338.1:n.840+19132C>T | |
| XM_011528037.1:c.840+19132C>T | XP_011526339.1:n.840+19132C>T | |
| XM_011528038.1:c.840+19132C>T | XP_011526340.1:n.840+19132C>T | |
| XR_936183.1:n.994+19132C>T | ||
| XR_936184.1:n.994+19132C>T | ||
| XR_936185.1:n.994+19132C>T | ||
| NM_001130065.2:c.840+19132C>T | NP_001123537.1:n.840+19132C>T | |
| NM_004145.4:c.840+19132C>T MANE Select | NP_004136.2:n.840+19132C>T |