Linked Data
dbSNP Id:
rs7781265
gnomAD v2:
7-150950940-G-A
gnomAD v3:
7-151253854-G-A
gnomAD v4:
7-151253854-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151253854G>A , CM000669.2:g.151253854G>A | GRCh38 |
| NC_000007.13:g.150950940G>A , CM000669.1:g.150950940G>A | GRCh37 |
| NC_000007.12:g.150581873G>A | NCBI36 |
| NG_029468.1:g.28292C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356800.6:c.40-8183C>T | ENSP00000349254.2:n.40-8183C>T | |
| ENST00000392811.6:c.40-8183C>T | ENSP00000376558.2:n.40-8183C>T | |
| ENST00000469154.5:c.71-10153C>T | ENSP00000417908.1:n.71-10153C>T | |
| ENST00000477169.5:n.184+441C>T | ||
| ENST00000491651.1:c.40-8183C>T | ENSP00000419886.1:n.40-8183C>T | |
| NM_001003802.1:c.40-8183C>T | NP_001003802.1:n.40-8183C>T | |
| NM_003078.3:c.40-8183C>T | NP_003069.2:n.40-8183C>T | |
| XM_011516521.1:c.-16-10153C>T | XP_011514823.1:n.-16-10153C>T | |
| XR_928174.1:n.717-459G>A | ||
| XM_011516521.2:c.-16-10153C>T | XP_011514823.1:n.-16-10153C>T | |
| XM_024446887.1:c.40-8183C>T | XP_024302655.1:n.40-8183C>T | |
| XM_024446888.1:c.-16-10153C>T | XP_024302656.1:n.-16-10153C>T | |
| XM_024446889.1:c.-221-10153C>T | XP_024302657.1:n.-221-10153C>T | |
| NM_003078.4:c.40-8183C>T | NP_003069.2:n.40-8183C>T | |
| NM_001003802.2:c.40-8183C>T | NP_001003802.1:n.40-8183C>T |