Linked Data
ClinVar Variation Id:
487078
ClinVar RCV Id:
RCV002268206
dbSNP Id:
rs1761667
gnomAD v2:
7-80244939-G-A
gnomAD v3:
7-80615623-G-A
gnomAD v4:
7-80615623-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.80615623G>A , CM000669.2:g.80615623G>A | GRCh38 |
| NC_000007.13:g.80244939G>A , CM000669.1:g.80244939G>A | GRCh37 |
| NC_000007.12:g.80082875G>A | NCBI36 |
| NG_008192.1:g.18436G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309881.11:c.-184+13244G>A | ENSP00000308165.7:n.-184+13244G>A | |
| ENST00000435819.5:c.-183-30465G>A | ENSP00000399421.1:n.-183-30465G>A | |
| ENST00000480599.6:n.230+13244G>A | ||
| ENST00000526804.5:n.155+13244G>A | ||
| ENST00000534394.5:c.-109+13244G>A | ENSP00000431296.1:n.-109+13244G>A | |
| NM_001001547.2:c.-184+13244G>A | NP_001001547.1:n.-184+13244G>A | |
| NM_001289911.1:c.-109+13244G>A | NP_001276840.1:n.-109+13244G>A | |
| XM_005250713.1:c.-184+13244G>A | XP_005250770.1:n.-184+13244G>A | |
| XM_024447003.1:c.-184+13244G>A | XP_024302771.1:n.-184+13244G>A | |
| NM_001001547.3:c.-184+13244G>A | NP_001001547.1:n.-184+13244G>A | |
| NM_001289911.2:c.-109+13244G>A | NP_001276840.1:n.-109+13244G>A | |
| NM_001371074.1:c.-180+13244G>A | NP_001358003.1:n.-180+13244G>A | |
| NM_001371075.1:c.-184+13244G>A | NP_001358004.1:n.-184+13244G>A | |
| NM_001371080.1:c.-185+13244G>A | NP_001358009.1:n.-185+13244G>A | |
| NM_001371081.1:c.-666+13244G>A | NP_001358010.1:n.-666+13244G>A |