Linked Data
dbSNP Id:
rs1140409
ExAC:
17:62496670 A / C
gnomAD v2:
17-62496670-A-C
gnomAD v3:
17-64500552-A-C
gnomAD v4:
17-64500552-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.64500552A>C , CM000679.2:g.64500552A>C | GRCh38 |
| NC_000017.10:g.62496670A>C , CM000679.1:g.62496670A>C | GRCh37 |
| NC_000017.9:g.59927132A>C | NCBI36 |
| NG_013029.1:g.1515T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225792.10:c.1438T>G MANE Select | ENSP00000225792.5:p.Ser480Ala | |
| ENST00000450599.7:c.1438T>G | ENSP00000403085.3:p.Ser480Ala | |
| ENST00000577922.6:c.1438T>G | ENSP00000464337.2:p.Ser480Ala | |
| ENST00000578491.2:n.2958T>G | ||
| ENST00000579461.2:n.3513T>G | ||
| ENST00000580026.6:n.2835T>G | ||
| ENST00000582326.2:n.4424T>G | ||
| ENST00000583212.2:c.1123T>G | ENSP00000463903.2:p.Ser375Ala | |
| ENST00000585111.2:c.1438T>G | ENSP00000463168.2:p.Ser480Ala | |
| ENST00000585317.2:n.3645T>G | ||
| ENST00000676575.1:n.2958T>G | ||
| ENST00000676581.1:c.*188T>G | ENSP00000504407.1:n.*188T>G | |
| ENST00000676601.1:c.*453T>G | ENSP00000504708.1:n.*453T>G | |
| ENST00000676785.1:c.1438T>G | ENSP00000504794.1:p.Ser480Ala | |
| ENST00000676969.1:n.2210T>G | ||
| ENST00000677726.1:c.*1053T>G | ENSP00000504260.1:n.*1053T>G | |
| ENST00000678110.1:n.3135T>G | ||
| ENST00000678757.1:c.*188T>G | ENSP00000504731.1:n.*188T>G | |
| ENST00000678810.1:n.3269T>G | ||
| ENST00000678814.1:c.*274T>G | ENSP00000503045.1:n.*274T>G | |
| ENST00000678890.1:n.3462T>G | ||
| ENST00000225792.9:c.1438T>G | ENSP00000225792.5:p.Ser480Ala | |
| ENST00000450599.6:c.1201T>G | ENSP00000403085.2:p.Ser401Ala | |
| ENST00000540698.6:c.*1050T>G | ENSP00000440276.2:n.*1050T>G | |
| ENST00000578758.5:n.471T>G | ||
| ENST00000578804.5:c.1438T>G | ENSP00000462885.1:p.Ser480Ala | |
| ENST00000580026.5:n.951T>G | ||
| ENST00000581230.5:n.2844T>G | ||
| ENST00000581237.2:n.447T>G | ||
| ENST00000581693.5:c.*1155T>G | ENSP00000464566.1:n.*1155T>G | |
| NM_004396.3:c.1438T>G | NP_004387.1:p.Ser480Ala | |
| XM_005257111.1:c.1438T>G | XP_005257168.1:p.Ser480Ala | |
| XM_006721738.1:c.1438T>G | XP_006721801.1:p.Ser480Ala | |
| XM_011524456.1:c.1438T>G | XP_011522758.1:p.Ser480Ala | |
| XM_011524457.1:c.1217-226T>G | XP_011522759.1:n.1217-226T>G | |
| NM_001320595.1:c.1438T>G | NP_001307524.1:p.Ser480Ala | |
| NM_001320596.2:c.1438T>G | NP_001307525.1:p.Ser480Ala | |
| NM_001320597.1:c.1438T>G | NP_001307526.1:p.Ser480Ala | |
| NM_004396.4:c.1438T>G | NP_004387.1:p.Ser480Ala | |
| NM_001320595.2:c.1438T>G | NP_001307524.1:p.Ser480Ala | |
| NM_001320597.2:c.1438T>G | NP_001307526.1:p.Ser480Ala | |
| NM_004396.5:c.1438T>G MANE Select | NP_004387.1:p.Ser480Ala | |
| NM_001320596.3:c.1438T>G | NP_001307525.1:p.Ser480Ala |