Linked Data
ClinVar Variation Id:
193450
dbSNP Id:
rs3806471
ExAC:
2:44066174 T / G
gnomAD v2:
2-44066174-T-G
gnomAD v3:
2-43839035-T-G
gnomAD v4:
2-43839035-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43839035T>G , CM000664.2:g.43839035T>G | GRCh38 |
| NC_000002.11:g.44066174T>G , CM000664.1:g.44066174T>G | GRCh37 |
| NC_000002.10:g.43919678T>G | NCBI36 |
| NG_008883.1:g.4785A>C | |
| NG_008884.1:g.5072T>G | |
| NG_008884.2:g.12094T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.-19T>G MANE Select | ENSP00000272286.2:n.-19T>G | |
| ENST00000643284.1:n.521-5472T>G | ||
| ENST00000644611.1:c.76-5472T>G | ENSP00000495423.1:n.76-5472T>G | |
| ENST00000272286.2:c.-19T>G | ENSP00000272286.2:n.-19T>G | |
| NM_022437.2:c.-19T>G | NP_071882.1:n.-19T>G | |
| XM_005264483.2:c.-19T>G | XP_005264540.1:n.-19T>G | |
| XM_011533029.1:c.76-5472T>G | XP_011531331.1:n.76-5472T>G | |
| XM_011533030.1:c.76-5472T>G | XP_011531332.1:n.76-5472T>G | |
| XM_011533031.1:c.-153-5472T>G | XP_011531333.1:n.-153-5472T>G | |
| XR_939707.1:n.566-5472T>G | ||
| NM_001357321.1:c.-19T>G | NP_001344250.1:n.-19T>G | |
| XM_011533029.2:c.76-5472T>G | XP_011531331.1:n.76-5472T>G | |
| XM_011533030.2:c.76-5472T>G | XP_011531332.1:n.76-5472T>G | |
| XR_001738891.1:n.580-5472T>G | ||
| XR_939707.2:n.580-5472T>G | ||
| NM_022437.3:c.-19T>G MANE Select | NP_071882.1:n.-19T>G | |
| NM_001357321.2:c.-19T>G | NP_001344250.1:n.-19T>G |