Linked Data
dbSNP Id:
rs11466212
gnomAD v2:
2-70757358-A-G
gnomAD v3:
2-70530226-A-G
gnomAD v4:
2-70530226-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70530226A>G , CM000664.2:g.70530226A>G | GRCh38 |
| NC_000002.11:g.70757358A>G , CM000664.1:g.70757358A>G | GRCh37 |
| NC_000002.10:g.70610866A>G | NCBI36 |
| NG_029975.1:g.28790T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295400.11:c.41-15314T>C MANE Select | ENSP00000295400.6:n.41-15314T>C | |
| ENST00000295400.10:c.41-15314T>C | ENSP00000295400.6:n.41-15314T>C | |
| ENST00000394241.3:c.41-15314T>C | ENSP00000377787.3:n.41-15314T>C | |
| ENST00000418333.6:c.41-15314T>C | ENSP00000404099.2:n.41-15314T>C | |
| ENST00000444975.5:c.59-15314T>C | ENSP00000404131.1:n.59-15314T>C | |
| ENST00000445399.5:c.41-15314T>C | ENSP00000387493.1:n.41-15314T>C | |
| ENST00000450929.5:c.59-15314T>C | ENSP00000414127.1:n.59-15314T>C | |
| ENST00000460808.5:n.100-15314T>C | ||
| ENST00000474101.1:n.94-15314T>C | ||
| NM_001099691.2:c.41-15314T>C | NP_001093161.1:n.41-15314T>C | |
| NM_001308158.1:c.59-15314T>C | NP_001295087.1:n.59-15314T>C | |
| NM_001308159.1:c.59-15314T>C | NP_001295088.1:n.59-15314T>C | |
| NM_003236.3:c.41-15314T>C | NP_003227.1:n.41-15314T>C | |
| NM_003236.4:c.41-15314T>C MANE Select | NP_003227.1:n.41-15314T>C | |
| NM_001099691.3:c.41-15314T>C | NP_001093161.1:n.41-15314T>C | |
| NM_001308158.2:c.59-15314T>C | NP_001295087.1:n.59-15314T>C | |
| NM_001308159.2:c.59-15314T>C | NP_001295088.1:n.59-15314T>C |