Linked Data
ClinVar Variation Id:
512962
ClinVar RCV Id:
RCV000616521
dbSNP Id:
rs763189979
gnomAD v4:
12-132687345-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132687345G>A , CM000674.2:g.132687345G>A | GRCh38 |
| NC_000012.11:g.133263931G>A , CM000674.1:g.133263931G>A | GRCh37 |
| NC_000012.10:g.131774004G>A | NCBI36 |
| NG_033840.1:g.5180C>T , LRG_789:g.5180C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699985.1:n.32C>T | ||
| ENST00000672742.1:c.-30C>T | ENSP00000500279.1:n.-30C>T | |
| ENST00000320574.9:c.-30C>T | ENSP00000322570.5:n.-30C>T | |
| ENST00000537064.5:c.-30C>T | ENSP00000442578.1:n.-30C>T | |
| ENST00000539357.1:n.21C>T | ||
| NM_006231.3:c.-30C>T , LRG_789t1:c.-30C>T | NP_006222.2:n.-30C>T | |
| XM_011534795.1:c.-30C>T | XP_011533097.1:n.-30C>T | |
| XM_011534799.1:c.-30C>T | XP_011533101.1:n.-30C>T | |
| XM_011534800.1:c.-30C>T | XP_011533102.1:n.-30C>T | |
| XM_011534801.1:c.-30C>T | XP_011533103.1:n.-30C>T | |
| XR_941395.1:n.180C>T | ||
| XM_011534795.3:c.-30C>T | XP_011533097.1:n.-30C>T | |
| XM_011534799.2:c.-30C>T | XP_011533101.1:n.-30C>T | |
| XR_002957338.1:n.175C>T | ||
| XR_002957339.1:n.175C>T | ||
| XR_941395.2:n.175C>T |