Linked Data
dbSNP Id:
rs11868513
gnomAD v2:
17-36052692-G-A
gnomAD v3:
17-37692682-G-A
gnomAD v4:
17-37692682-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.37692682G>A , CM000679.2:g.37692682G>A | GRCh38 |
| NC_000017.10:g.36052692G>A , CM000679.1:g.36052692G>A | GRCh37 |
| NC_000017.9:g.33126805G>A | NCBI36 |
| NG_013019.2:g.57425C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000617811.5:c.1654-5290C>T MANE Select | ENSP00000480291.1:n.1654-5290C>T | |
| ENST00000613727.4:c.1262-5290C>T | ENSP00000477524.1:n.1262-5290C>T | |
| ENST00000614313.4:c.1535-5290C>T | ENSP00000482529.1:n.1535-5290C>T | |
| ENST00000617272.4:c.*258-5290C>T | ENSP00000478682.1:n.*258-5290C>T | |
| ENST00000617811.4:c.1654-5290C>T | ENSP00000480291.1:n.1654-5290C>T | |
| ENST00000621123.4:c.1576-5290C>T | ENSP00000482711.1:n.1576-5290C>T | |
| NM_000458.3:c.1654-5290C>T | NP_000449.1:n.1654-5290C>T | |
| NM_001165923.3:c.1576-5290C>T | NP_001159395.1:n.1576-5290C>T | |
| NM_001304286.1:c.1262-5290C>T | NP_001291215.1:n.1262-5290C>T | |
| XM_011525160.1:c.1535-5290C>T | XP_011523462.1:n.1535-5290C>T | |
| XM_011525161.1:c.1459-5290C>T | XP_011523463.1:n.1459-5290C>T | |
| XM_011525164.1:c.1457-5290C>T | XP_011523466.1:n.1457-5290C>T | |
| NM_000458.4:c.1654-5290C>T MANE Select | NP_000449.1:n.1654-5290C>T | |
| NM_001165923.4:c.1576-5290C>T | NP_001159395.1:n.1576-5290C>T | |
| NM_001304286.2:c.1262-5290C>T | NP_001291215.1:n.1262-5290C>T |