Linked Data
ClinVar Variation Id:
526226
dbSNP Id:
rs182262644
ExAC:
18:11753860 A / G
gnomAD v2:
18-11753860-A-G
gnomAD v3:
18-11753861-A-G
gnomAD v4:
18-11753861-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.11753861A>G , CM000680.2:g.11753861A>G | GRCh38 |
| NC_000018.9:g.11753860A>G , CM000680.1:g.11753860A>G | GRCh37 |
| NC_000018.8:g.11743860A>G | NCBI36 |
| NG_033866.1:g.69847A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334049.11:c.540A>G MANE Select | ENSP00000334051.5:p.Pro180= | |
| ENST00000423027.8:c.309A>G MANE Plus Clinical | ENSP00000408489.2:p.Pro103= | |
| ENST00000269162.9:c.309A>G | ENSP00000269162.4:p.Pro103= | |
| ENST00000334049.10:c.540A>G | ENSP00000334051.5:p.Pro180= | |
| ENST00000423027.7:c.309A>G | ENSP00000408489.2:p.Pro103= | |
| ENST00000535121.5:c.309A>G | ENSP00000439023.1:p.Pro103= | |
| ENST00000585642.5:c.126A>G | ENSP00000467345.1:p.Pro42= | |
| ENST00000590228.1:c.21A>G | ENSP00000467709.1:p.Pro7= | |
| ENST00000590972.1:n.133A>G | ||
| NM_001142339.2:c.309A>G | NP_001135811.1:p.Pro103= | |
| NM_001261443.1:c.309A>G | NP_001248372.1:p.Pro103= | |
| NM_182978.3:c.540A>G | NP_892023.1:p.Pro180= | |
| XM_006722323.2:c.309A>G | XP_006722386.1:p.Pro103= | |
| XM_006722324.1:c.540A>G | XP_006722387.1:p.Pro180= | |
| XM_011525654.1:c.309A>G | XP_011523956.1:p.Pro103= | |
| XM_006722324.3:c.540A>G | XP_006722387.1:p.Pro180= | |
| XM_024451164.1:c.309A>G | XP_024306932.1:p.Pro103= | |
| NM_182978.4:c.540A>G MANE Select | NP_892023.1:p.Pro180= | |
| NM_001369387.1:c.309A>G MANE Plus Clinical | NP_001356316.1:p.Pro103= | |
| NM_001142339.3:c.309A>G | NP_001135811.1:p.Pro103= | |
| NM_001261443.2:c.309A>G | NP_001248372.1:p.Pro103= |