Linked Data
dbSNP Id:
rs1770372254
gnomAD v3:
6-31400756-C-T
gnomAD v4:
6-31400756-C-T
MyVariant Identifiers:
chr6:g.31368533C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31400756C>T , CM000668.2:g.31400756C>T | GRCh38 |
| NC_000006.11:g.31368533C>T , CM000668.1:g.31368533C>T | GRCh37 |
| NC_000006.10:g.31476512C>T | NCBI36 |
| NG_034139.1:g.5973C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000667609.1:n.57C>T | ||
| ENST00000673647.1:c.-396C>T | ENSP00000500967.1:n.-396C>T | |
| ENST00000673996.1:n.52C>T | ||
| ENST00000674069.1:c.-180C>T | ENSP00000501157.1:n.-180C>T | |
| ENST00000674131.1:c.-416C>T | ENSP00000501002.1:n.-416C>T | |
| ENST00000616296.4:c.-249C>T | ENSP00000482382.1:n.-249C>T | |
| NM_001289152.1:c.-249C>T | NP_001276081.1:n.-249C>T | |
| NM_001289153.1:c.-229C>T | NP_001276082.1:n.-229C>T | |
| NM_001289154.1:c.-180C>T | NP_001276083.1:n.-180C>T | |
| NM_001289152.2:c.-249C>T | NP_001276081.1:n.-249C>T | |
| NM_001289153.2:c.-229C>T | NP_001276082.1:n.-229C>T | |
| NM_001289154.2:c.-180C>T | NP_001276083.1:n.-180C>T |