Linked Data
dbSNP Id:
rs1471384
gnomAD v2:
10-67964373-G-T
gnomAD v3:
10-66204615-G-T
gnomAD v4:
10-66204615-G-T
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.66204615G>T , CM000672.2:g.66204615G>T | GRCh38 |
| NC_000010.10:g.67964373G>T , CM000672.1:g.67964373G>T | GRCh37 |
| NC_000010.9:g.67634379G>T | NCBI36 |
| NG_034072.1:g.1496577C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682758.1:c.1884+75855C>A | ENSP00000508047.1:n.1884+75855C>A | |
| ENST00000682945.1:c.1683+75855C>A | ENSP00000506843.1:n.1683+75855C>A | |
| ENST00000683624.1:c.*1423+75855C>A | ENSP00000507406.1:n.*1423+75855C>A | |
| ENST00000683963.1:c.*1408+75855C>A | ENSP00000507029.1:n.*1408+75855C>A | |
| ENST00000684154.1:c.1884+75855C>A | ENSP00000508371.1:n.1884+75855C>A | |
| ENST00000433211.7:c.1884+75855C>A MANE Select | ENSP00000389714.1:n.1884+75855C>A | |
| ENST00000433211.6:c.1884+75855C>A | ENSP00000389714.1:n.1884+75855C>A | |
| NM_001127384.2:c.1884+75855C>A | NP_001120856.1:n.1884+75855C>A | |
| NM_013266.3:c.1884+75855C>A | NP_037398.2:n.1884+75855C>A | |
| XM_005269717.2:c.1920+75855C>A | XP_005269774.1:n.1920+75855C>A | |
| XM_011539721.1:c.1989+75855C>A | XP_011538023.1:n.1989+75855C>A | |
| XM_011539722.1:c.1989+75855C>A | XP_011538024.1:n.1989+75855C>A | |
| XM_011539723.1:c.1953+75855C>A | XP_011538025.1:n.1953+75855C>A | |
| XM_011539724.1:c.1953+75855C>A | XP_011538026.1:n.1953+75855C>A | |
| XM_011539725.1:c.1953+75855C>A | XP_011538027.1:n.1953+75855C>A | |
| XM_011539726.1:c.1920+75855C>A | XP_011538028.1:n.1920+75855C>A | |
| XM_011539727.1:c.1884+75855C>A | XP_011538029.1:n.1884+75855C>A | |
| XR_946024.1:n.915+10509G>T | ||
| XR_946025.1:n.915+10509G>T | ||
| XR_946028.1:n.850+10509G>T | ||
| XM_017016151.1:c.1953+75855C>A | XP_016871640.1:n.1953+75855C>A | |
| XM_017016152.1:c.2109+75855C>A | XP_016871641.1:n.2109+75855C>A | |
| XM_017016153.1:c.1920+75855C>A | XP_016871642.1:n.1920+75855C>A | |
| XM_017016154.1:c.1101+75855C>A | XP_016871643.1:n.1101+75855C>A | |
| XM_017016155.2:c.1101+75855C>A | XP_016871644.1:n.1101+75855C>A | |
| XM_017016156.1:c.1101+75855C>A | XP_016871645.1:n.1101+75855C>A | |
| XM_017016157.2:c.789+75855C>A | XP_016871646.1:n.789+75855C>A | |
| XR_001747691.1:n.1193+10509G>T | ||
| XR_001747692.2:n.1193+10509G>T | ||
| XR_001747693.1:n.1188+10509G>T | ||
| XR_001747694.1:n.1193+10509G>T | ||
| XR_001747695.1:n.1911+10509G>T | ||
| XR_001747696.1:n.1013+10509G>T | ||
| XR_001747697.1:n.1925+10509G>T | ||
| XR_001747698.1:n.1018+10509G>T | ||
| XR_001747699.1:n.1903+10509G>T | ||
| XR_001747700.1:n.1005+10509G>T | ||
| XR_001747701.1:n.541+10509G>T | ||
| XR_001747702.1:n.1128+10509G>T | ||
| NM_013266.4:c.1884+75855C>A MANE Select | NP_037398.2:n.1884+75855C>A | |
| NM_001127384.3:c.1884+75855C>A | NP_001120856.1:n.1884+75855C>A |