Linked Data
dbSNP Id:
rs10764338
gnomAD v2:
10-22866892-T-C
gnomAD v3:
10-22577963-T-C
gnomAD v4:
10-22577963-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.22577963T>C , CM000672.2:g.22577963T>C | GRCh38 |
| NC_000010.10:g.22866892T>C , CM000672.1:g.22866892T>C | GRCh37 |
| NC_000010.9:g.22906898T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376573.9:c.493-4506A>G MANE Select | ENSP00000365757.4:n.493-4506A>G | |
| ENST00000323883.11:c.31-4506A>G | ENSP00000326294.7:n.31-4506A>G | |
| ENST00000376573.8:c.493-4506A>G | ENSP00000365757.4:n.493-4506A>G | |
| ENST00000422321.5:n.349-4506A>G | ||
| ENST00000545335.5:c.316-4506A>G | ENSP00000442098.1:n.316-4506A>G | |
| ENST00000604912.1:c.31-4506A>G | ENSP00000473858.1:n.31-4506A>G | |
| NM_005028.4:c.493-4506A>G | NP_005019.2:n.493-4506A>G | |
| XM_006717450.2:c.340-4506A>G | XP_006717513.1:n.340-4506A>G | |
| XM_011519494.1:c.493-4506A>G | XP_011517796.1:n.493-4506A>G | |
| XM_011519495.1:c.406-4506A>G | XP_011517797.1:n.406-4506A>G | |
| XM_011519496.1:c.316-4506A>G | XP_011517798.1:n.316-4506A>G | |
| XM_011519497.1:c.493-4506A>G | XP_011517799.1:n.493-4506A>G | |
| NM_001330062.1:c.316-4506A>G | NP_001316991.1:n.316-4506A>G | |
| XM_017016330.1:c.316-4506A>G | XP_016871819.1:n.316-4506A>G | |
| XM_017016331.1:c.316-4506A>G | XP_016871820.1:n.316-4506A>G | |
| XM_017016332.1:c.163-4506A>G | XP_016871821.1:n.163-4506A>G | |
| NM_005028.5:c.493-4506A>G MANE Select | NP_005019.2:n.493-4506A>G | |
| NM_001330062.2:c.316-4506A>G | NP_001316991.1:n.316-4506A>G |