Linked Data
dbSNP Id:
rs1030589445
gnomAD v2:
7-77671296-C-T
gnomAD v3:
7-78041979-C-T
gnomAD v4:
7-78041979-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.78041979C>T , CM000669.2:g.78041979C>T | GRCh38 |
| NC_000007.13:g.77671296C>T , CM000669.1:g.77671296C>T | GRCh37 |
| NC_000007.12:g.77509232C>T | NCBI36 |
| NG_011487.1:g.1416595G>A | |
| NG_011487.2:g.1416596G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354212.9:c.3707-22003G>A MANE Select | ENSP00000346151.4:n.3707-22003G>A | |
| ENST00000635961.1:n.83-6772G>A | ||
| ENST00000637441.1:c.3479-22003G>A | ENSP00000489633.1:n.3479-22003G>A | |
| ENST00000637585.1:c.79-15875G>A | ENSP00000490629.1:n.79-15875G>A | |
| ENST00000637976.1:n.28-2348G>A | ||
| ENST00000354212.8:c.3707-22003G>A | ENSP00000346151.4:n.3707-22003G>A | |
| ENST00000419488.5:c.3665-22003G>A | ENSP00000405766.1:n.3665-22003G>A | |
| ENST00000522391.3:c.3796-22003G>A | ENSP00000428389.1:n.3796-22003G>A | |
| ENST00000535697.5:c.3251-22003G>A | ENSP00000441603.3:n.3251-22003G>A | |
| ENST00000626691.2:c.3307-22003G>A | ENSP00000486131.1:n.3307-22003G>A | |
| ENST00000628980.2:c.3293-22003G>A | ENSP00000487526.1:n.3293-22003G>A | |
| ENST00000629359.2:c.3265-22003G>A | ENSP00000487448.1:n.3265-22003G>A | |
| NM_001301128.1:c.3665-22003G>A | NP_001288057.1:n.3665-22003G>A | |
| NM_012301.3:c.3707-22003G>A | NP_036433.2:n.3707-22003G>A | |
| XM_011516718.1:c.3796-15875G>A | XP_011515020.1:n.3796-15875G>A | |
| XM_011516719.1:c.3436-15875G>A | XP_011515021.1:n.3436-15875G>A | |
| XM_011516720.1:c.3436-15875G>A | XP_011515022.1:n.3436-15875G>A | |
| XM_011516721.1:c.3265-15875G>A | XP_011515023.1:n.3265-15875G>A | |
| XM_011516722.1:c.3256-15875G>A | XP_011515024.1:n.3256-15875G>A | |
| XM_011516723.1:c.3796-22003G>A | XP_011515025.1:n.3796-22003G>A | |
| XM_011516724.1:c.*50-22003G>A | XP_011515026.1:n.*50-22003G>A | |
| XM_011516725.1:c.*50-15875G>A | XP_011515027.1:n.*50-15875G>A | |
| XM_011516726.1:c.2752-15875G>A | XP_011515028.1:n.2752-15875G>A | |
| XM_011516727.1:c.2752-15875G>A | XP_011515029.1:n.2752-15875G>A | |
| XM_011516728.1:c.2623-15875G>A | XP_011515030.1:n.2623-15875G>A | |
| XM_011516729.1:c.2575-15875G>A | XP_011515031.1:n.2575-15875G>A | |
| XM_011516718.2:c.3796-15875G>A | XP_011515020.1:n.3796-15875G>A | |
| XM_011516719.3:c.3436-15875G>A | XP_011515021.1:n.3436-15875G>A | |
| XM_011516720.3:c.3436-15875G>A | XP_011515022.1:n.3436-15875G>A | |
| XM_011516726.3:c.2752-15875G>A | XP_011515028.1:n.2752-15875G>A | |
| XM_017012840.2:c.3925-15875G>A | XP_016868329.1:n.3925-15875G>A | |
| XM_017012841.2:c.3922-15875G>A | XP_016868330.1:n.3922-15875G>A | |
| XM_017012842.2:c.3919-15875G>A | XP_016868331.1:n.3919-15875G>A | |
| XM_017012843.2:c.3883-15875G>A | XP_016868332.1:n.3883-15875G>A | |
| XM_017012844.2:c.3836-22003G>A | XP_016868333.1:n.3836-22003G>A | |
| XM_017012845.2:c.3790-15875G>A | XP_016868334.1:n.3790-15875G>A | |
| XM_017012846.2:c.3754-15875G>A | XP_016868335.1:n.3754-15875G>A | |
| XM_017012847.2:c.3436-15875G>A | XP_016868336.1:n.3436-15875G>A | |
| XM_017012848.2:c.3307-15875G>A | XP_016868337.1:n.3307-15875G>A | |
| XM_017012849.2:c.3301-15875G>A | XP_016868338.1:n.3301-15875G>A | |
| XM_017012850.2:c.3925-22003G>A | XP_016868339.1:n.3925-22003G>A | |
| XM_017012851.2:c.*50-22003G>A | XP_016868340.1:n.*50-22003G>A | |
| XM_017012852.2:c.3836-15875G>A | XP_016868341.1:n.3836-15875G>A | |
| XM_024447009.1:c.3436-15875G>A | XP_024302777.1:n.3436-15875G>A | |
| NM_012301.4:c.3707-22003G>A MANE Select | NP_036433.2:n.3707-22003G>A | |
| NM_001301128.2:c.3665-22003G>A | NP_001288057.1:n.3665-22003G>A |