Linked Data
dbSNP Id:
rs12987661
gnomAD v2:
2-69813458-T-C
gnomAD v3:
2-69586326-T-C
gnomAD v4:
2-69586326-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.69586326T>C , CM000664.2:g.69586326T>C | GRCh38 |
| NC_000002.11:g.69813458T>C , CM000664.1:g.69813458T>C | GRCh37 |
| NC_000002.10:g.69666962T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000606389.8:c.164-29348A>G | ENSP00000485350.2:n.164-29348A>G | |
| ENST00000409085.9:c.164-29348A>G MANE Select | ENSP00000386456.3:n.164-29348A>G | |
| ENST00000606389.7:c.164-29348A>G | ENSP00000485350.2:n.164-29348A>G | |
| ENST00000406297.7:c.164-29348A>G | ENSP00000385181.3:n.164-29348A>G | |
| ENST00000409068.5:c.164-29348A>G | ENSP00000386342.1:n.164-29348A>G | |
| ENST00000409085.8:c.164-29348A>G | ENSP00000386456.3:n.164-29348A>G | |
| ENST00000495836.1:n.541-29348A>G | ||
| NM_014911.3:c.164-29348A>G | NP_055726.3:n.164-29348A>G | |
| NM_014911.4:c.164-29348A>G | NP_055726.3:n.164-29348A>G | |
| NM_001371575.1:c.164-29348A>G | NP_001358504.1:n.164-29348A>G | |
| NM_001371577.1:c.164-29348A>G | NP_001358506.1:n.164-29348A>G | |
| NM_014911.5:c.164-29348A>G MANE Select | NP_055726.4:n.164-29348A>G |