Linked Data
dbSNP Id:
rs2253478
gnomAD v2:
7-113977996-A-G
gnomAD v3:
7-114337941-A-G
gnomAD v4:
7-114337941-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.114337941A>G , CM000669.2:g.114337941A>G | GRCh38 |
| NC_000007.13:g.113977996A>G , CM000669.1:g.113977996A>G | GRCh37 |
| NC_000007.12:g.113765232A>G | NCBI36 |
| NG_007491.2:g.256632A>G | |
| NG_007491.3:g.256632A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703612.1:c.-11+49832A>G | ENSP00000515396.1:n.-11+49832A>G | |
| ENST00000703613.1:c.-11+49832A>G | ENSP00000515397.1:n.-11+49832A>G | |
| ENST00000703614.1:c.-11+49832A>G | ENSP00000515398.1:n.-11+49832A>G | |
| ENST00000703615.1:c.-11+49832A>G | ENSP00000515399.1:n.-11+49832A>G | |
| ENST00000703616.1:c.-11+49832A>G | ENSP00000515400.1:n.-11+49832A>G | |
| ENST00000412402.5:c.-11+49832A>G | ENSP00000405470.1:n.-11+49832A>G | |
| ENST00000440349.5:c.-11+49832A>G | ENSP00000395552.1:n.-11+49832A>G | |
| ENST00000441290.6:c.-146-28564A>G | ENSP00000416825.1:n.-146-28564A>G | |
| ENST00000495516.1:n.341+49832A>G | ||
| ENST00000634411.1:c.-11+49832A>G | ENSP00000489135.1:n.-11+49832A>G | |
| ENST00000634623.1:c.-11+49832A>G | ENSP00000488944.1:n.-11+49832A>G | |
| ENST00000635109.1:c.-11+49832A>G | ENSP00000489457.1:n.-11+49832A>G | |
| ENST00000635638.1:c.-11+49832A>G | ENSP00000489073.1:n.-11+49832A>G | |
| NR_033766.1:n.393+49832A>G | ||
| XM_011516706.1:c.-11+17871A>G | XP_011515008.1:n.-11+17871A>G | |
| XM_017012801.2:c.-11+49832A>G | XP_016868290.1:n.-11+49832A>G | |
| NR_033766.2:n.376+49832A>G |