Linked Data
dbSNP Id:
rs1184280342
gnomAD v2:
7-113740931-T-G
gnomAD v3:
7-114100876-T-G
gnomAD v4:
7-114100876-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.114100876T>G , CM000669.2:g.114100876T>G | GRCh38 |
| NC_000007.13:g.113740931T>G , CM000669.1:g.113740931T>G | GRCh37 |
| NC_000007.12:g.113528167T>G | NCBI36 |
| NG_007491.2:g.19567T>G | |
| NG_007491.3:g.19567T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703612.1:c.-247+14265T>G | ENSP00000515396.1:n.-247+14265T>G | |
| ENST00000703613.1:c.-365+14265T>G | ENSP00000515397.1:n.-365+14265T>G | |
| ENST00000703614.1:c.-247+14265T>G | ENSP00000515398.1:n.-247+14265T>G | |
| ENST00000703615.1:c.-365+14265T>G | ENSP00000515399.1:n.-365+14265T>G | |
| ENST00000703616.1:c.-247+13038T>G | ENSP00000515400.1:n.-247+13038T>G | |
| ENST00000412402.5:c.-102+14265T>G | ENSP00000405470.1:n.-102+14265T>G | |
| ENST00000440349.5:c.-247+14265T>G | ENSP00000395552.1:n.-247+14265T>G | |
| ENST00000441290.6:c.-435+14265T>G | ENSP00000416825.1:n.-435+14265T>G | |
| ENST00000495516.1:n.105+12606T>G | ||
| ENST00000635638.1:c.-247+13038T>G | ENSP00000489073.1:n.-247+13038T>G | |
| NR_033766.1:n.302+14265T>G | ||
| XM_011516706.1:c.-360+14265T>G | XP_011515008.1:n.-360+14265T>G | |
| XM_017012801.2:c.-247+12448T>G | XP_016868290.1:n.-247+12448T>G | |
| NR_033766.2:n.285+14265T>G |