Linked Data
dbSNP Id:
rs990425249
gnomAD v2:
3-53157631-G-A
gnomAD v3:
3-53123615-G-A
gnomAD v4:
3-53123615-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53123615G>A , CM000665.2:g.53123615G>A | GRCh38 |
| NC_000003.11:g.53157631G>A , CM000665.1:g.53157631G>A | GRCh37 |
| NC_000003.10:g.53132671G>A | NCBI36 |
| NG_009203.1:g.11840C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296292.8:c.266+109C>T MANE Select | ENSP00000296292.3:n.266+109C>T | |
| ENST00000296292.7:c.266+109C>T | ENSP00000296292.3:n.266+109C>T | |
| ENST00000394738.7:c.150-1052C>T | ENSP00000378223.3:n.150-1052C>T | |
| ENST00000467048.1:c.266+109C>T | ENSP00000420325.1:n.266+109C>T | |
| NM_052859.3:c.266+109C>T | NP_443091.1:n.266+109C>T | |
| XM_005265537.3:c.266+109C>T | XP_005265594.1:n.266+109C>T | |
| XM_006713384.2:c.266+109C>T | XP_006713447.1:n.266+109C>T | |
| XM_011534214.1:c.266+109C>T | XP_011532516.1:n.266+109C>T | |
| XM_011534215.1:c.266+109C>T | XP_011532517.1:n.266+109C>T | |
| XR_940507.1:n.325+109C>T | ||
| XM_005265537.4:c.266+109C>T | XP_005265594.1:n.266+109C>T | |
| XM_006713384.3:c.266+109C>T | XP_006713447.1:n.266+109C>T | |
| XM_011534214.2:c.266+109C>T | XP_011532516.1:n.266+109C>T | |
| XM_011534215.3:c.266+109C>T | XP_011532517.1:n.266+109C>T | |
| XM_011534216.3:c.-575+109C>T | XP_011532518.1:n.-575+109C>T | |
| XM_017007460.1:c.266+109C>T | XP_016862949.1:n.266+109C>T | |
| XM_017007461.2:c.-575+109C>T | XP_016862950.1:n.-575+109C>T | |
| XR_001740360.2:n.332+109C>T | ||
| NM_052859.4:c.266+109C>T MANE Select | NP_443091.1:n.266+109C>T |