Linked Data
ClinVar Variation Id:
1190444
ClinVar RCV Id:
RCV001551165
dbSNP Id:
rs113648443
gnomAD v2:
2-44071533-A-G
gnomAD v3:
2-43844394-A-G
gnomAD v4:
2-43844394-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43844394A>G , CM000664.2:g.43844394A>G | GRCh38 |
| NC_000002.11:g.44071533A>G , CM000664.1:g.44071533A>G | GRCh37 |
| NC_000002.10:g.43925037A>G | NCBI36 |
| NG_008884.1:g.10431A>G | |
| NG_008884.2:g.17453A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.64-113A>G MANE Select | ENSP00000272286.2:n.64-113A>G | |
| ENST00000643284.1:n.521-113A>G | ||
| ENST00000644611.1:c.76-113A>G | ENSP00000495423.1:n.76-113A>G | |
| ENST00000272286.2:c.64-113A>G | ENSP00000272286.2:n.64-113A>G | |
| NM_022437.2:c.64-113A>G | NP_071882.1:n.64-113A>G | |
| XM_005264483.2:c.64-113A>G | XP_005264540.1:n.64-113A>G | |
| XM_011533029.1:c.76-113A>G | XP_011531331.1:n.76-113A>G | |
| XM_011533030.1:c.76-113A>G | XP_011531332.1:n.76-113A>G | |
| XM_011533031.1:c.-153-113A>G | XP_011531333.1:n.-153-113A>G | |
| XR_939707.1:n.566-113A>G | ||
| XR_940032.1:n.92+35T>C | ||
| NM_001357321.1:c.64-113A>G | NP_001344250.1:n.64-113A>G | |
| XM_011533029.2:c.76-113A>G | XP_011531331.1:n.76-113A>G | |
| XM_011533030.2:c.76-113A>G | XP_011531332.1:n.76-113A>G | |
| XR_001738891.1:n.580-113A>G | ||
| XR_939707.2:n.580-113A>G | ||
| XR_940032.3:n.92+35T>C | ||
| NM_022437.3:c.64-113A>G MANE Select | NP_071882.1:n.64-113A>G | |
| NM_001357321.2:c.64-113A>G | NP_001344250.1:n.64-113A>G |