Linked Data
dbSNP Id:
rs1571878
gnomAD v2:
6-167540842-C-T
gnomAD v3:
6-167127354-C-T
gnomAD v4:
6-167127354-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.167127354C>T , CM000668.2:g.167127354C>T | GRCh38 |
| NC_000006.11:g.167540842C>T , CM000668.1:g.167540842C>T | GRCh37 |
| NC_000006.10:g.167460832C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000609590.2:n.2170-7580C>T | ||
| ENST00000705249.1:c.1066-8684C>T | ENSP00000516101.1:n.1066-8684C>T | |
| ENST00000705250.1:c.844-8684C>T | ENSP00000516102.1:n.844-8684C>T | |
| ENST00000705251.1:c.*713-8684C>T | ENSP00000516103.1:n.*713-8684C>T | |
| ENST00000705252.1:c.*536-8684C>T | ENSP00000516104.1:n.*536-8684C>T | |
| ENST00000705253.1:c.*536-8684C>T | ENSP00000516105.1:n.*536-8684C>T | |
| ENST00000705254.1:c.673-8684C>T | ENSP00000516106.1:n.673-8684C>T | |
| ENST00000705255.1:n.1692-8684C>T | ||
| ENST00000341935.10:c.-98+4131C>T MANE Select | ENSP00000343952.5:n.-98+4131C>T | |
| ENST00000643861.1:c.-98+4131C>T | ENSP00000493637.1:n.-98+4131C>T | |
| ENST00000341935.9:c.-98+4131C>T | ENSP00000343952.5:n.-98+4131C>T | |
| ENST00000349984.6:c.-98+4131C>T | ENSP00000339393.4:n.-98+4131C>T | |
| ENST00000400926.5:c.-97-8684C>T | ENSP00000383715.2:n.-97-8684C>T | |
| NM_004367.5:c.-97-8684C>T | NP_004358.2:n.-97-8684C>T | |
| NM_031409.3:c.-98+4131C>T | NP_113597.2:n.-98+4131C>T | |
| XR_001744470.1:n.1267G>A | ||
| NM_004367.6:c.-97-8684C>T | NP_004358.2:n.-97-8684C>T | |
| NM_031409.4:c.-98+4131C>T MANE Select | NP_113597.2:n.-98+4131C>T | |
| NM_001394582.1:c.-98+4131C>T | NP_001381511.1:n.-98+4131C>T |