Linked Data
dbSNP Id:
rs1002630
gnomAD v2:
7-29428070-G-A
gnomAD v3:
7-29388454-G-A
gnomAD v4:
7-29388454-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.29388454G>A , CM000669.2:g.29388454G>A | GRCh38 |
| NC_000007.13:g.29428070G>A , CM000669.1:g.29428070G>A | GRCh37 |
| NC_000007.12:g.29394595G>A | NCBI36 |
| NG_029365.2:g.246908G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409350.6:c.184-5225G>A | ENSP00000386968.2:n.184-5225G>A | |
| ENST00000439384.6:n.407-5225G>A | ||
| ENST00000446446.6:c.145-5225G>A | ENSP00000396867.2:n.145-5225G>A | |
| ENST00000706158.1:c.*89-5225G>A | ENSP00000516236.1:n.*89-5225G>A | |
| ENST00000706159.1:c.89-9919G>A | ENSP00000516237.1:n.89-9919G>A | |
| ENST00000706160.1:c.145-5225G>A | ENSP00000516238.1:n.145-5225G>A | |
| ENST00000706161.1:c.223-5225G>A | ENSP00000516239.1:n.223-5225G>A | |
| ENST00000706162.1:c.145-5225G>A | ENSP00000516240.1:n.145-5225G>A | |
| ENST00000706163.1:c.50-91825G>A | ENSP00000516241.1:n.50-91825G>A | |
| ENST00000222792.11:c.145-5225G>A MANE Select | ENSP00000222792.7:n.145-5225G>A | |
| ENST00000644824.1:c.370-5225G>A | ENSP00000495614.1:n.370-5225G>A | |
| ENST00000222792.10:c.145-5225G>A | ENSP00000222792.6:n.145-5225G>A | |
| ENST00000409350.5:c.184-5225G>A | ENSP00000386968.1:n.184-5225G>A | |
| ENST00000409922.5:n.356-5225G>A | ||
| ENST00000409964.6:n.344-5225G>A | ||
| ENST00000412536.5:n.165-5225G>A | ||
| ENST00000435288.6:c.145-5225G>A | ENSP00000400282.3:n.145-5225G>A | |
| ENST00000439384.5:c.370-5225G>A | ENSP00000409843.1:n.370-5225G>A | |
| ENST00000474070.5:c.245-5225G>A | ||
| ENST00000478128.6:n.239-5225G>A | ||
| ENST00000482820.6:n.354-5225G>A | ||
| ENST00000495789.6:c.145-5225G>A | ENSP00000438587.2:n.145-5225G>A | |
| ENST00000539389.5:c.145-5225G>A | ENSP00000440526.2:n.145-5225G>A | |
| ENST00000539406.5:c.145-5225G>A | ENSP00000444063.2:n.145-5225G>A | |
| NM_001293069.1:c.370-5225G>A | NP_001279998.1:n.370-5225G>A | |
| NM_001293070.1:c.184-5225G>A | NP_001279999.1:n.184-5225G>A | |
| NM_001293071.1:c.40-5225G>A | NP_001280000.1:n.40-5225G>A | |
| NM_001293072.1:c.100-5225G>A | NP_001280001.1:n.100-5225G>A | |
| NM_004067.3:c.145-5225G>A | NP_004058.1:n.145-5225G>A | |
| XM_011515105.1:c.448-5225G>A | XP_011513407.1:n.448-5225G>A | |
| XM_011515106.1:c.409-5225G>A | XP_011513408.1:n.409-5225G>A | |
| XM_011515107.1:c.223-5225G>A | XP_011513409.1:n.223-5225G>A | |
| XM_011515108.1:c.145-5225G>A | XP_011513410.1:n.145-5225G>A | |
| XM_011515109.1:c.106-5225G>A | XP_011513411.1:n.106-5225G>A | |
| XM_011515110.1:c.67-5225G>A | XP_011513412.1:n.67-5225G>A | |
| XM_011515111.1:c.40-5225G>A | XP_011513413.1:n.40-5225G>A | |
| XM_011515112.1:c.448-5225G>A | XP_011513414.1:n.448-5225G>A | |
| XM_011515105.2:c.448-5225G>A | XP_011513407.1:n.448-5225G>A | |
| XM_011515106.2:c.409-5225G>A | XP_011513408.1:n.409-5225G>A | |
| XM_011515107.2:c.223-5225G>A | XP_011513409.1:n.223-5225G>A | |
| XM_017011721.1:c.466-5225G>A | XP_016867210.1:n.466-5225G>A | |
| XM_017011722.1:c.241-5225G>A | XP_016867211.1:n.241-5225G>A | |
| NM_004067.4:c.145-5225G>A MANE Select | NP_004058.1:n.145-5225G>A | |
| NM_001293070.2:c.184-5225G>A | NP_001279999.1:n.184-5225G>A | |
| NM_001293071.2:c.40-5225G>A | NP_001280000.1:n.40-5225G>A | |
| NM_001293072.2:c.100-5225G>A | NP_001280001.1:n.100-5225G>A | |
| NM_001398427.1:c.-294-5225G>A | NP_001385356.1:n.-294-5225G>A |