Linked Data
dbSNP Id:
rs1342387
gnomAD v2:
1-202914356-T-C
gnomAD v3:
1-202945228-T-C
gnomAD v4:
1-202945228-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.202945228T>C , CM000663.2:g.202945228T>C | GRCh38 |
| NC_000001.10:g.202914356T>C , CM000663.1:g.202914356T>C | GRCh37 |
| NC_000001.9:g.201180979T>C | NCBI36 |
| NG_052860.1:g.18345A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340990.10:c.431-59A>G MANE Select | ENSP00000341785.5:n.431-59A>G | |
| ENST00000340990.9:c.431-59A>G | ENSP00000341785.5:n.431-59A>G | |
| ENST00000367254.7:c.430+1211A>G | ENSP00000356223.3:n.430+1211A>G | |
| ENST00000417068.5:c.431-59A>G | ENSP00000402178.1:n.431-59A>G | |
| ENST00000426229.1:c.431-59A>G | ENSP00000392946.1:n.431-59A>G | |
| NM_001290553.1:c.431-59A>G | NP_001277482.1:n.431-59A>G | |
| NM_001290557.1:c.431-59A>G | NP_001277486.1:n.431-59A>G | |
| NM_001290629.1:c.431-59A>G | NP_001277558.1:n.431-59A>G | |
| NM_015999.5:c.431-59A>G | NP_057083.2:n.431-59A>G | |
| XM_017001407.1:c.-61-33A>G | XP_016856896.1:n.-61-33A>G | |
| XM_024447427.1:c.-61-33A>G | XP_024303195.1:n.-61-33A>G | |
| NM_015999.6:c.431-59A>G MANE Select | NP_057083.2:n.431-59A>G | |
| NM_001290553.2:c.431-59A>G | NP_001277482.1:n.431-59A>G |