Linked Data
gnomAD v4:
11-47335005-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47335005A>G , CM000673.2:g.47335005A>G | GRCh38 |
| NC_000011.9:g.47356556A>G , CM000673.1:g.47356556A>G | GRCh37 |
| NC_000011.8:g.47313132A>G | NCBI36 |
| NG_007667.1:g.22698T>C , LRG_386:g.22698T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.2905+37T>C MANE Select | ENSP00000442795.1:n.2905+37T>C | |
| ENST00000256993.8:c.2905+37T>C | ENSP00000256993.5:n.2905+37T>C | |
| ENST00000399249.6:c.2905+37T>C | ENSP00000382193.2:n.2905+37T>C | |
| ENST00000545968.5:c.2905+37T>C | ENSP00000442795.1:n.2905+37T>C | |
| NM_000256.3:c.2905+37T>C , LRG_386t1:c.2905+37T>C MANE Select | NP_000247.2:n.2905+37T>C | |
| XM_011520117.1:c.2887+37T>C | XP_011518419.1:n.2887+37T>C | |
| XM_011520118.1:c.2824+37T>C | XP_011518420.1:n.2824+37T>C |