Linked Data
dbSNP Id:
rs10895547
gnomAD v2:
11-103808152-C-T
gnomAD v3:
11-103937424-C-T
gnomAD v4:
11-103937424-C-T
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.103937424C>T , CM000673.2:g.103937424C>T | GRCh38 |
| NC_000011.9:g.103808152C>T , CM000673.1:g.103808152C>T | GRCh37 |
| NC_000011.8:g.103313362C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393158.7:c.772+6028G>A MANE Select | ENSP00000376865.2:n.772+6028G>A | |
| ENST00000302251.9:c.754+6028G>A | ENSP00000302193.5:n.754+6028G>A | |
| ENST00000393158.6:c.772+6028G>A | ENSP00000376865.2:n.772+6028G>A | |
| NM_025208.4:c.772+6028G>A | NP_079484.1:n.772+6028G>A | |
| NM_033135.3:c.754+6028G>A | NP_149126.1:n.754+6028G>A | |
| NM_025208.5:c.772+6028G>A MANE Select | NP_079484.1:n.772+6028G>A | |
| NM_033135.4:c.754+6028G>A | NP_149126.1:n.754+6028G>A |