Linked Data
ClinVar Variation Id:
512859
ClinVar RCV Id:
RCV000615309
dbSNP Id:
rs764493951
gnomAD v2:
12-133263933-G-T
gnomAD v3:
12-132687347-G-T
gnomAD v4:
12-132687347-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132687347G>T , CM000674.2:g.132687347G>T | GRCh38 |
| NC_000012.11:g.133263933G>T , CM000674.1:g.133263933G>T | GRCh37 |
| NC_000012.10:g.131774006G>T | NCBI36 |
| NG_033840.1:g.5178C>A , LRG_789:g.5178C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699985.1:n.30C>A | ||
| ENST00000672742.1:c.-32C>A | ENSP00000500279.1:n.-32C>A | |
| ENST00000320574.9:c.-32C>A | ENSP00000322570.5:n.-32C>A | |
| ENST00000537064.5:c.-32C>A | ENSP00000442578.1:n.-32C>A | |
| ENST00000539357.1:n.19C>A | ||
| NM_006231.3:c.-32C>A , LRG_789t1:c.-32C>A | NP_006222.2:n.-32C>A | |
| XM_011534795.1:c.-32C>A | XP_011533097.1:n.-32C>A | |
| XM_011534799.1:c.-32C>A | XP_011533101.1:n.-32C>A | |
| XM_011534800.1:c.-32C>A | XP_011533102.1:n.-32C>A | |
| XM_011534801.1:c.-32C>A | XP_011533103.1:n.-32C>A | |
| XR_941395.1:n.178C>A | ||
| XM_011534795.3:c.-32C>A | XP_011533097.1:n.-32C>A | |
| XM_011534799.2:c.-32C>A | XP_011533101.1:n.-32C>A | |
| XR_002957338.1:n.173C>A | ||
| XR_002957339.1:n.173C>A | ||
| XR_941395.2:n.173C>A |