Linked Data
dbSNP Id:
rs758185719
ExAC:
11:47356561 C / T
gnomAD v2:
11-47356561-C-T
gnomAD v3:
11-47335010-C-T
gnomAD v4:
11-47335010-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47335010C>T , CM000673.2:g.47335010C>T | GRCh38 |
| NC_000011.9:g.47356561C>T , CM000673.1:g.47356561C>T | GRCh37 |
| NC_000011.8:g.47313137C>T | NCBI36 |
| NG_007667.1:g.22693G>A , LRG_386:g.22693G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.2905+32G>A MANE Select | ENSP00000442795.1:n.2905+32G>A | |
| ENST00000256993.8:c.2905+32G>A | ENSP00000256993.5:n.2905+32G>A | |
| ENST00000399249.6:c.2905+32G>A | ENSP00000382193.2:n.2905+32G>A | |
| ENST00000545968.5:c.2905+32G>A | ENSP00000442795.1:n.2905+32G>A | |
| NM_000256.3:c.2905+32G>A , LRG_386t1:c.2905+32G>A MANE Select | NP_000247.2:n.2905+32G>A | |
| XM_011520117.1:c.2887+32G>A | XP_011518419.1:n.2887+32G>A | |
| XM_011520118.1:c.2824+32G>A | XP_011518420.1:n.2824+32G>A |