Linked Data
ClinVar Variation Id:
380430
ClinVar RCV Id:
RCV000430998
dbSNP Id:
rs754662026
ExAC:
12:133263945 G / T
gnomAD v2:
12-133263945-G-T
gnomAD v3:
12-132687359-G-T
gnomAD v4:
12-132687359-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132687359G>T , CM000674.2:g.132687359G>T | GRCh38 |
| NC_000012.11:g.133263945G>T , CM000674.1:g.133263945G>T | GRCh37 |
| NC_000012.10:g.131774018G>T | NCBI36 |
| NG_033840.1:g.5166C>A , LRG_789:g.5166C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699985.1:n.18C>A | ||
| ENST00000672742.1:c.-44C>A | ENSP00000500279.1:n.-44C>A | |
| ENST00000320574.9:c.-44C>A | ENSP00000322570.5:n.-44C>A | |
| ENST00000539357.1:n.7C>A | ||
| NM_006231.3:c.-44C>A , LRG_789t1:c.-44C>A | NP_006222.2:n.-44C>A | |
| XM_011534795.1:c.-44C>A | XP_011533097.1:n.-44C>A | |
| XM_011534799.1:c.-44C>A | XP_011533101.1:n.-44C>A | |
| XM_011534800.1:c.-44C>A | XP_011533102.1:n.-44C>A | |
| XM_011534801.1:c.-44C>A | XP_011533103.1:n.-44C>A | |
| XR_941395.1:n.166C>A | ||
| XM_011534795.3:c.-44C>A | XP_011533097.1:n.-44C>A | |
| XM_011534799.2:c.-44C>A | XP_011533101.1:n.-44C>A | |
| XR_002957338.1:n.161C>A | ||
| XR_002957339.1:n.161C>A | ||
| XR_941395.2:n.161C>A |