Linked Data
dbSNP Id:
rs11773845
gnomAD v2:
7-116191301-C-A
gnomAD v3:
7-116551247-C-A
gnomAD v4:
7-116551247-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116551247C>A , CM000669.2:g.116551247C>A | GRCh38 |
| NC_000007.13:g.116191301C>A , CM000669.1:g.116191301C>A | GRCh37 |
| NC_000007.12:g.115978537C>A | NCBI36 |
| NG_012051.1:g.31463C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341049.7:c.196-7699C>A MANE Select | ENSP00000339191.2:n.196-7699C>A | |
| ENST00000405348.6:c.103-7699C>A | ENSP00000384348.1:n.103-7699C>A | |
| ENST00000614113.5:c.*26-7699C>A | ENSP00000479447.2:n.*26-7699C>A | |
| ENST00000341049.6:c.196-7699C>A | ENSP00000339191.2:n.196-7699C>A | |
| ENST00000393467.1:c.103-7699C>A | ENSP00000377110.1:n.103-7699C>A | |
| ENST00000393468.1:c.103-7699C>A | ENSP00000377111.1:n.103-7699C>A | |
| ENST00000393470.1:c.163-7699C>A | ENSP00000377113.1:n.163-7699C>A | |
| ENST00000405348.5:c.103-7699C>A | ENSP00000384348.1:n.103-7699C>A | |
| ENST00000451122.5:c.*648-7699C>A | ENSP00000409541.1:n.*648-7699C>A | |
| ENST00000456473.5:c.103-7699C>A | ENSP00000389033.1:n.103-7699C>A | |
| ENST00000614113.4:c.103-7699C>A | ENSP00000479447.1:n.103-7699C>A | |
| NM_001172895.1:c.103-7699C>A | NP_001166366.1:n.103-7699C>A | |
| NM_001172896.1:c.103-7699C>A | NP_001166367.1:n.103-7699C>A | |
| NM_001172897.1:c.103-7699C>A | NP_001166368.1:n.103-7699C>A | |
| NM_001753.4:c.196-7699C>A | NP_001744.2:n.196-7699C>A | |
| NM_001753.5:c.196-7699C>A MANE Select | NP_001744.2:n.196-7699C>A | |
| NM_001172896.2:c.103-7699C>A | NP_001166367.1:n.103-7699C>A | |
| NM_001172897.2:c.103-7699C>A | NP_001166368.1:n.103-7699C>A |