Linked Data
dbSNP Id:
rs964138756
gnomAD v2:
6-32800366-T-C
gnomAD v3:
6-32832589-T-C
gnomAD v4:
6-32832589-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32832589T>C , CM000668.2:g.32832589T>C | GRCh38 |
| NC_000006.11:g.32800366T>C , CM000668.1:g.32800366T>C | GRCh37 |
| NC_000006.10:g.32908344T>C | NCBI36 |
| NG_009793.3:g.11182A>G | |
| NG_009793.4:g.11182A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000485701.2:n.3546+38A>G | ||
| ENST00000698440.1:c.1143+38A>G | ENSP00000513722.1:n.1143+38A>G | |
| ENST00000698441.1:c.1143+38A>G | ENSP00000513723.1:n.1143+38A>G | |
| ENST00000698448.1:c.1143+38A>G | ENSP00000513733.1:n.1143+38A>G | |
| ENST00000698449.1:c.1143+38A>G | ENSP00000513734.1:n.1143+38A>G | |
| ENST00000705716.1:c.1143+38A>G | ENSP00000516164.1:n.1143+38A>G | |
| ENST00000374897.4:c.1143+38A>G MANE Select | ENSP00000364032.3:n.1143+38A>G | |
| ENST00000652259.1:c.1143+38A>G | ENSP00000498827.1:n.1143+38A>G | |
| ENST00000374897.2:c.1143+38A>G | ENSP00000364032.2:n.1143+38A>G | |
| ENST00000374899.8:c.1143+38A>G | ENSP00000364034.4:n.1143+38A>G | |
| ENST00000452392.2:c.1143+38A>G | ENSP00000391806.2:n.1143+38A>G | |
| ENST00000485701.1:n.107+38A>G | ||
| ENST00000620123.4:c.1143+38A>G | ENSP00000481712.1:n.1143+38A>G | |
| NM_001290043.1:c.1143+38A>G | NP_001276972.1:n.1143+38A>G | |
| NM_018833.2:c.1143+38A>G | NP_061313.2:n.1143+38A>G | |
| NM_001290043.2:c.1143+38A>G MANE Select | NP_001276972.1:n.1143+38A>G | |
| NM_018833.3:c.1143+38A>G | NP_061313.2:n.1143+38A>G |