Linked Data
dbSNP Id:
rs560245079
ExAC:
11:17634125 G / A
gnomAD v2:
11-17634125-G-A
gnomAD v3:
11-17612578-G-A
gnomAD v4:
11-17612578-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17612578G>A , CM000673.2:g.17612578G>A | GRCh38 |
| NC_000011.9:g.17634125G>A , CM000673.1:g.17634125G>A | GRCh37 |
| NC_000011.8:g.17590701G>A | NCBI36 |
| NG_033191.1:g.70206G>A | |
| NG_033191.2:g.70206G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.6329-42G>A | ENSP00000382323.2:n.6329-42G>A | |
| ENST00000399397.6:c.6293-42G>A MANE Select | ENSP00000382329.2:n.6293-42G>A | |
| ENST00000342528.2:c.3347-42G>A | ENSP00000341666.2:n.3347-42G>A | |
| ENST00000399391.6:c.6329-42G>A | ENSP00000382323.2:n.6329-42G>A | |
| ENST00000399397.5:c.6293-42G>A | ENSP00000382329.2:n.6293-42G>A | |
| NM_001277269.1:c.6329-42G>A | NP_001264198.1:n.6329-42G>A | |
| NM_001292063.1:c.6293-42G>A | NP_001278992.1:n.6293-42G>A | |
| NM_001277269.2:c.6329-42G>A | NP_001264198.1:n.6329-42G>A | |
| NM_001292063.2:c.6293-42G>A MANE Select | NP_001278992.1:n.6293-42G>A |