Linked Data
dbSNP Id:
rs16851771
gnomAD v2:
2-215188619-A-G
gnomAD v3:
2-214323895-A-G
gnomAD v4:
2-214323895-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214323895A>G , CM000664.2:g.214323895A>G | GRCh38 |
| NC_000002.11:g.215188619A>G , CM000664.1:g.215188619A>G | GRCh37 |
| NC_000002.10:g.214896864A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000331683.10:c.1721-86245A>G MANE Select | ENSP00000332592.5:n.1721-86245A>G | |
| ENST00000331683.9:c.1721-86245A>G | ENSP00000332592.5:n.1721-86245A>G | |
| ENST00000406979.6:c.*1722-86245A>G | ENSP00000385496.2:n.*1722-86245A>G | |
| ENST00000451561.1:c.593-86245A>G | ENSP00000416600.1:n.593-86245A>G | |
| ENST00000480494.1:n.463-86245A>G | ||
| NM_024532.4:c.1721-86245A>G | NP_078808.3:n.1721-86245A>G | |
| NR_047659.1:n.2001-86245A>G | ||
| NR_047660.1:n.1707-86245A>G | ||
| XM_011511814.1:c.1628-86245A>G | XP_011510116.1:n.1628-86245A>G | |
| XM_011511819.1:c.1559-86245A>G | XP_011510121.1:n.1559-86245A>G | |
| XM_011511820.1:c.1535-86245A>G | XP_011510122.1:n.1535-86245A>G | |
| XM_011511821.1:c.1439-86245A>G | XP_011510123.1:n.1439-86245A>G | |
| XM_011511822.1:c.1412-86245A>G | XP_011510124.1:n.1412-86245A>G | |
| XM_011511823.1:c.1412-86245A>G | XP_011510125.1:n.1412-86245A>G | |
| XM_011511825.1:c.1364-86245A>G | XP_011510127.1:n.1364-86245A>G | |
| XM_011511835.1:c.797-86245A>G | XP_011510137.1:n.797-86245A>G | |
| XM_011511836.1:c.797-86245A>G | XP_011510138.1:n.797-86245A>G | |
| XM_011511819.2:c.1559-86245A>G | XP_011510121.1:n.1559-86245A>G | |
| XM_011511820.2:c.1535-86245A>G | XP_011510122.1:n.1535-86245A>G | |
| XM_011511821.2:c.1439-86245A>G | XP_011510123.1:n.1439-86245A>G | |
| XM_011511823.3:c.1412-86245A>G | XP_011510125.1:n.1412-86245A>G | |
| XM_017004896.1:c.1364-86245A>G | XP_016860385.1:n.1364-86245A>G | |
| XM_017004897.1:c.1364-86245A>G | XP_016860386.1:n.1364-86245A>G | |
| XM_017004898.1:c.998-86245A>G | XP_016860387.1:n.998-86245A>G | |
| XM_024453140.1:c.803-86245A>G | XP_024308908.1:n.803-86245A>G | |
| NM_024532.5:c.1721-86245A>G MANE Select | NP_078808.3:n.1721-86245A>G | |
| NR_047659.2:n.1916-86245A>G | ||
| NR_047660.2:n.1622-86245A>G |