Linked Data
dbSNP Id:
rs10270569
gnomAD v2:
7-116182782-C-T
gnomAD v3:
7-116542728-C-T
gnomAD v4:
7-116542728-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116542728C>T , CM000669.2:g.116542728C>T | GRCh38 |
| NC_000007.13:g.116182782C>T , CM000669.1:g.116182782C>T | GRCh37 |
| NC_000007.12:g.115970018C>T | NCBI36 |
| NG_012051.1:g.22944C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341049.7:c.195+16039C>T MANE Select | ENSP00000339191.2:n.195+16039C>T | |
| ENST00000405348.6:c.102+16039C>T | ENSP00000384348.1:n.102+16039C>T | |
| ENST00000614113.5:c.*25+16039C>T | ENSP00000479447.2:n.*25+16039C>T | |
| ENST00000341049.6:c.195+16039C>T | ENSP00000339191.2:n.195+16039C>T | |
| ENST00000393467.1:c.102+16039C>T | ENSP00000377110.1:n.102+16039C>T | |
| ENST00000393468.1:c.102+16039C>T | ENSP00000377111.1:n.102+16039C>T | |
| ENST00000393470.1:c.162+16039C>T | ENSP00000377113.1:n.162+16039C>T | |
| ENST00000405348.5:c.102+16039C>T | ENSP00000384348.1:n.102+16039C>T | |
| ENST00000451122.5:c.*647+16039C>T | ENSP00000409541.1:n.*647+16039C>T | |
| ENST00000456473.5:c.102+16039C>T | ENSP00000389033.1:n.102+16039C>T | |
| ENST00000614113.4:c.102+16039C>T | ENSP00000479447.1:n.102+16039C>T | |
| NM_001172895.1:c.102+16039C>T | NP_001166366.1:n.102+16039C>T | |
| NM_001172896.1:c.102+16039C>T | NP_001166367.1:n.102+16039C>T | |
| NM_001172897.1:c.102+16039C>T | NP_001166368.1:n.102+16039C>T | |
| NM_001753.4:c.195+16039C>T | NP_001744.2:n.195+16039C>T | |
| NM_001753.5:c.195+16039C>T MANE Select | NP_001744.2:n.195+16039C>T | |
| NM_001172896.2:c.102+16039C>T | NP_001166367.1:n.102+16039C>T | |
| NM_001172897.2:c.102+16039C>T | NP_001166368.1:n.102+16039C>T |