Linked Data
dbSNP Id:
rs10758325
gnomAD v2:
9-35804149-G-A
gnomAD v3:
9-35804152-G-A
gnomAD v4:
9-35804152-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35804152G>A , CM000671.2:g.35804152G>A | GRCh38 |
| NC_000009.11:g.35804149G>A , CM000671.1:g.35804149G>A | GRCh37 |
| NC_000009.10:g.35794149G>A | NCBI36 |
| NG_009249.1:g.16744G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000448821.6:c.1887+1349G>A | ENSP00000402902.2:n.1887+1349G>A | |
| ENST00000685871.1:c.1816-1359G>A | ENSP00000509964.1:n.1816-1359G>A | |
| ENST00000686159.1:n.1926+1349G>A | ||
| ENST00000686486.1:n.1057+1349G>A | ||
| ENST00000687302.1:n.2001+1349G>A | ||
| ENST00000687357.1:c.1741-1359G>A | ENSP00000509549.1:n.1741-1359G>A | |
| ENST00000687625.1:n.1042+1349G>A | ||
| ENST00000687787.1:c.1887+1349G>A | ENSP00000509440.1:n.1887+1349G>A | |
| ENST00000688201.1:n.1844+1349G>A | ||
| ENST00000688226.1:n.1819+1349G>A | ||
| ENST00000688869.1:n.2193+1349G>A | ||
| ENST00000689788.1:c.1681+1349G>A | ENSP00000508973.1:n.1681+1349G>A | |
| ENST00000689898.1:c.1745-1359G>A | ENSP00000509651.1:n.1745-1359G>A | |
| ENST00000690070.1:c.1812+1349G>A | ENSP00000509654.1:n.1812+1349G>A | |
| ENST00000690267.1:c.1676+1349G>A | ENSP00000510432.1:n.1676+1349G>A | |
| ENST00000690552.1:n.1748+1349G>A | ||
| ENST00000691138.1:n.1677-1359G>A | ||
| ENST00000691969.1:c.1387+1349G>A | ENSP00000510244.1:n.1387+1349G>A | |
| ENST00000692232.1:n.3043+1349G>A | ||
| ENST00000692233.1:c.1751+1349G>A | ENSP00000509698.1:n.1751+1349G>A | |
| ENST00000692380.1:n.1042+1349G>A | ||
| ENST00000692447.1:n.3003+1349G>A | ||
| ENST00000693094.1:c.1887+1349G>A | ENSP00000510161.1:n.1887+1349G>A | |
| ENST00000342694.7:c.1887+1349G>A MANE Select | ENSP00000341083.2:n.1887+1349G>A | |
| ENST00000342694.6:c.1887+1349G>A | ENSP00000341083.2:n.1887+1349G>A | |
| ENST00000464810.5:n.1887+1349G>A | ||
| NM_003995.3:c.1887+1349G>A | NP_003986.2:n.1887+1349G>A | |
| XM_005251478.3:c.1896+1349G>A | XP_005251535.1:n.1896+1349G>A | |
| XM_005251479.3:c.909+1349G>A | XP_005251536.1:n.909+1349G>A | |
| XM_006716778.2:c.1825-1359G>A | XP_006716841.1:n.1825-1359G>A | |
| XM_011517889.1:c.909+1349G>A | XP_011516191.1:n.909+1349G>A | |
| XM_011517890.1:c.909+1349G>A | XP_011516192.1:n.909+1349G>A | |
| XM_011517891.1:c.909+1349G>A | XP_011516193.1:n.909+1349G>A | |
| XM_011517892.1:c.909+1349G>A | XP_011516194.1:n.909+1349G>A | |
| XM_011517893.1:c.909+1349G>A | XP_011516195.1:n.909+1349G>A | |
| XM_011517894.1:c.909+1349G>A | XP_011516196.1:n.909+1349G>A | |
| XM_011517895.1:c.492+1349G>A | XP_011516197.1:n.492+1349G>A | |
| XM_024447556.1:c.1896+1349G>A | XP_024303324.1:n.1896+1349G>A | |
| XM_024447557.1:c.1887+1349G>A | XP_024303325.1:n.1887+1349G>A | |
| XM_024447558.1:c.909+1349G>A | XP_024303326.1:n.909+1349G>A | |
| XM_024447559.1:c.492+1349G>A | XP_024303327.1:n.492+1349G>A | |
| XM_024447560.1:c.483+1349G>A | XP_024303328.1:n.483+1349G>A | |
| XM_024447561.1:c.483+1349G>A | XP_024303329.1:n.483+1349G>A | |
| NM_003995.4:c.1887+1349G>A MANE Select | NP_003986.2:n.1887+1349G>A | |
| NM_001378923.1:c.1896+1349G>A | NP_001365852.1:n.1896+1349G>A |