Linked Data
dbSNP Id:
rs1294211556
gnomAD v2:
10-68088518-A-T
gnomAD v3:
10-66328760-A-T
gnomAD v4:
10-66328760-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.66328760A>T , CM000672.2:g.66328760A>T | GRCh38 |
| NC_000010.10:g.68088518A>T , CM000672.1:g.68088518A>T | GRCh37 |
| NC_000010.9:g.67758524A>T | NCBI36 |
| NG_034072.1:g.1372432T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682758.1:c.1733-48139T>A | ENSP00000508047.1:n.1733-48139T>A | |
| ENST00000682945.1:c.1532-48139T>A | ENSP00000506843.1:n.1532-48139T>A | |
| ENST00000683624.1:c.*1272-48139T>A | ENSP00000507406.1:n.*1272-48139T>A | |
| ENST00000683963.1:c.*1257-48139T>A | ENSP00000507029.1:n.*1257-48139T>A | |
| ENST00000684154.1:c.1733-48139T>A | ENSP00000508371.1:n.1733-48139T>A | |
| ENST00000433211.7:c.1733-48139T>A MANE Select | ENSP00000389714.1:n.1733-48139T>A | |
| ENST00000433211.6:c.1733-48139T>A | ENSP00000389714.1:n.1733-48139T>A | |
| NM_001127384.2:c.1733-48139T>A | NP_001120856.1:n.1733-48139T>A | |
| NM_013266.3:c.1733-48139T>A | NP_037398.2:n.1733-48139T>A | |
| XM_005269717.2:c.1769-48139T>A | XP_005269774.1:n.1769-48139T>A | |
| XM_011539721.1:c.1838-48139T>A | XP_011538023.1:n.1838-48139T>A | |
| XM_011539722.1:c.1838-48139T>A | XP_011538024.1:n.1838-48139T>A | |
| XM_011539723.1:c.1802-48139T>A | XP_011538025.1:n.1802-48139T>A | |
| XM_011539724.1:c.1802-48139T>A | XP_011538026.1:n.1802-48139T>A | |
| XM_011539725.1:c.1802-48139T>A | XP_011538027.1:n.1802-48139T>A | |
| XM_011539726.1:c.1769-48139T>A | XP_011538028.1:n.1769-48139T>A | |
| XM_011539727.1:c.1733-48139T>A | XP_011538029.1:n.1733-48139T>A | |
| XM_017016151.1:c.1802-48139T>A | XP_016871640.1:n.1802-48139T>A | |
| XM_017016152.1:c.1958-48139T>A | XP_016871641.1:n.1958-48139T>A | |
| XM_017016153.1:c.1769-48139T>A | XP_016871642.1:n.1769-48139T>A | |
| XM_017016154.1:c.950-48139T>A | XP_016871643.1:n.950-48139T>A | |
| XM_017016155.2:c.950-48139T>A | XP_016871644.1:n.950-48139T>A | |
| XM_017016156.1:c.950-48139T>A | XP_016871645.1:n.950-48139T>A | |
| XM_017016157.2:c.638-48139T>A | XP_016871646.1:n.638-48139T>A | |
| NM_013266.4:c.1733-48139T>A MANE Select | NP_037398.2:n.1733-48139T>A | |
| NM_001127384.3:c.1733-48139T>A | NP_001120856.1:n.1733-48139T>A |