Linked Data
ClinVar Variation Id:
1063248
ClinVar RCV Id:
RCV001373069
dbSNP Id:
rs2136103070
gnomAD v4:
9-95249370-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95249370C>G , CM000671.2:g.95249370C>G | GRCh38 |
| NC_000009.11:g.98011652C>G , CM000671.1:g.98011652C>G | GRCh37 |
| NC_000009.10:g.97051473C>G | NCBI36 |
| NG_011707.1:g.73340G>C , LRG_497:g.73340G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696261.1:n.169-1G>C | ||
| ENST00000696262.1:c.-78-1G>C | ENSP00000512510.1:n.-78-1G>C | |
| ENST00000696263.1:n.178-1G>C | ||
| ENST00000289081.8:c.-78-1G>C MANE Select | ENSP00000289081.3:n.-78-1G>C | |
| ENST00000375305.6:c.-78-1G>C | ENSP00000364454.1:n.-78-1G>C | |
| ENST00000490972.7:c.-78-1G>C | ENSP00000479931.1:n.-78-1G>C | |
| ENST00000636777.1:n.20-40G>C | ||
| ENST00000647778.1:c.-78-1G>C | ENSP00000498125.1:n.-78-1G>C | |
| ENST00000647882.1:c.-78-1G>C | ENSP00000497025.1:n.-78-1G>C | |
| ENST00000648415.1:n.1561-1G>C | ||
| ENST00000649519.1:c.-78-1G>C | ENSP00000497630.1:n.-78-1G>C | |
| ENST00000649611.1:c.-78-1G>C | ENSP00000497986.1:n.-78-1G>C | |
| ENST00000650176.1:n.103-1G>C | ||
| ENST00000289081.7:c.-78-1G>C | ENSP00000289081.3:n.-78-1G>C | |
| ENST00000375305.5:c.-78-1G>C | ENSP00000364454.1:n.-78-1G>C | |
| ENST00000433829.1:c.-78-1G>C | ENSP00000406908.1:n.-78-1G>C | |
| ENST00000474949.1:n.185-1G>C | ||
| ENST00000490972.6:c.-78-1G>C | ENSP00000479931.1:n.-78-1G>C | |
| NM_000136.2:c.-78-1G>C , LRG_497t1:c.-78-1G>C | NP_000127.2:n.-78-1G>C | |
| NM_001243743.1:c.-78-1G>C | NP_001230672.1:n.-78-1G>C | |
| NM_001243744.1:c.-78-1G>C | NP_001230673.1:n.-78-1G>C | |
| XM_006717001.1:c.-78-1G>C | XP_006717064.1:n.-78-1G>C | |
| XM_006717002.2:c.-78-1G>C | XP_006717065.1:n.-78-1G>C | |
| XM_006717004.2:c.-78-1G>C | XP_006717067.1:n.-78-1G>C | |
| XM_011518365.1:c.-78-1G>C | XP_011516667.1:n.-78-1G>C | |
| XM_011518366.1:c.-78-1G>C | XP_011516668.1:n.-78-1G>C | |
| XM_011518367.1:c.-679-1G>C | XP_011516669.1:n.-679-1G>C | |
| XM_006717001.3:c.-78-1G>C | XP_006717064.1:n.-78-1G>C | |
| XM_006717002.4:c.-78-1G>C | XP_006717065.1:n.-78-1G>C | |
| XM_006717004.4:c.-78-1G>C | XP_006717067.1:n.-78-1G>C | |
| XM_011518365.3:c.-78-1G>C | XP_011516667.1:n.-78-1G>C | |
| XM_011518366.3:c.-78-1G>C | XP_011516668.1:n.-78-1G>C | |
| XM_011518367.2:c.-679-1G>C | XP_011516669.1:n.-679-1G>C | |
| XM_017014452.2:c.-679-1G>C | XP_016869941.1:n.-679-1G>C | |
| XM_017014453.1:c.-679-1G>C | XP_016869942.1:n.-679-1G>C | |
| XM_017014454.1:c.-679-1G>C | XP_016869943.1:n.-679-1G>C | |
| XM_024447451.1:c.-78-1G>C | XP_024303219.1:n.-78-1G>C | |
| NM_000136.3:c.-78-1G>C MANE Select | NP_000127.2:n.-78-1G>C | |
| NM_001243743.2:c.-78-1G>C | NP_001230672.1:n.-78-1G>C | |
| NM_001243744.2:c.-78-1G>C | NP_001230673.1:n.-78-1G>C |