Linked Data
dbSNP Id:
rs7902091
gnomAD v2:
10-68598292-C-A
gnomAD v3:
10-66838534-C-A
gnomAD v4:
10-66838534-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.66838534C>A , CM000672.2:g.66838534C>A | GRCh38 |
| NC_000010.10:g.68598292C>A , CM000672.1:g.68598292C>A | GRCh37 |
| NC_000010.9:g.68268298C>A | NCBI36 |
| NG_034072.1:g.862658G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682758.1:c.1048-63010G>T | ENSP00000508047.1:n.1048-63010G>T | |
| ENST00000682945.1:c.1048-63010G>T | ENSP00000506843.1:n.1048-63010G>T | |
| ENST00000683272.1:n.1242-63010G>T | ||
| ENST00000683624.1:c.*744-63010G>T | ENSP00000507406.1:n.*744-63010G>T | |
| ENST00000683771.1:n.573-63010G>T | ||
| ENST00000683963.1:c.*572-63010G>T | ENSP00000507029.1:n.*572-63010G>T | |
| ENST00000684154.1:c.1048-63010G>T | ENSP00000508371.1:n.1048-63010G>T | |
| ENST00000684489.1:n.148+39589G>T | ||
| ENST00000433211.7:c.1048-63010G>T MANE Select | ENSP00000389714.1:n.1048-63010G>T | |
| ENST00000433211.6:c.1048-63010G>T | ENSP00000389714.1:n.1048-63010G>T | |
| ENST00000494580.1:c.128-63010G>T | ||
| NM_001127384.2:c.1048-63010G>T | NP_001120856.1:n.1048-63010G>T | |
| NM_013266.3:c.1048-63010G>T | NP_037398.2:n.1048-63010G>T | |
| XM_005269717.2:c.1084-63010G>T | XP_005269774.1:n.1084-63010G>T | |
| XM_011539721.1:c.1153-63010G>T | XP_011538023.1:n.1153-63010G>T | |
| XM_011539722.1:c.1153-63010G>T | XP_011538024.1:n.1153-63010G>T | |
| XM_011539723.1:c.1117-63010G>T | XP_011538025.1:n.1117-63010G>T | |
| XM_011539724.1:c.1117-63010G>T | XP_011538026.1:n.1117-63010G>T | |
| XM_011539725.1:c.1117-63010G>T | XP_011538027.1:n.1117-63010G>T | |
| XM_011539726.1:c.1084-63010G>T | XP_011538028.1:n.1084-63010G>T | |
| XM_011539727.1:c.1048-63010G>T | XP_011538029.1:n.1048-63010G>T | |
| XM_017016151.1:c.1117-63010G>T | XP_016871640.1:n.1117-63010G>T | |
| XM_017016152.1:c.1273-63010G>T | XP_016871641.1:n.1273-63010G>T | |
| XM_017016153.1:c.1084-63010G>T | XP_016871642.1:n.1084-63010G>T | |
| XM_017016154.1:c.265-63010G>T | XP_016871643.1:n.265-63010G>T | |
| XM_017016155.2:c.265-63010G>T | XP_016871644.1:n.265-63010G>T | |
| XM_017016156.1:c.265-63010G>T | XP_016871645.1:n.265-63010G>T | |
| XM_017016157.2:c.-635G>T | XP_016871646.1:n.-635G>T | |
| NM_013266.4:c.1048-63010G>T MANE Select | NP_037398.2:n.1048-63010G>T | |
| NM_001127384.3:c.1048-63010G>T | NP_001120856.1:n.1048-63010G>T |