Linked Data
dbSNP Id:
rs477692
gnomAD v2:
10-131426022-T-C
gnomAD v3:
10-129627758-T-C
gnomAD v4:
10-129627758-T-C
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.129627758T>C , CM000672.2:g.129627758T>C | GRCh38 |
| NC_000010.10:g.131426022T>C , CM000672.1:g.131426022T>C | GRCh37 |
| NC_000010.9:g.131316012T>C | NCBI36 |
| NG_052673.1:g.165575T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000306010.8:c.219-80137T>C | ENSP00000302111.7:n.219-80137T>C | |
| ENST00000651593.1:c.126-80137T>C MANE Select | ENSP00000498729.1:n.126-80137T>C | |
| ENST00000306010.7:c.219-80137T>C | ENSP00000302111.7:n.219-80137T>C | |
| NM_002412.3:c.219-80137T>C | NP_002403.2:n.219-80137T>C | |
| NM_002412.4:c.219-80137T>C | NP_002403.2:n.219-80137T>C | |
| XM_005252682.2:c.126-80137T>C | XP_005252739.1:n.126-80137T>C | |
| XM_006717863.2:c.-125-19004T>C | XP_006717926.1:n.-125-19004T>C | |
| XM_011539817.1:c.-3-19004T>C | XP_011538119.1:n.-3-19004T>C | |
| NM_002412.5:c.126-80137T>C MANE Select | NP_002403.3:n.126-80137T>C |