Linked Data
ClinVar Variation Id:
291538
dbSNP Id:
rs563115409
ExAC:
1:103488532 T / A
gnomAD v2:
1-103488532-T-A
gnomAD v3:
1-103022976-T-A
gnomAD v4:
1-103022976-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.103022976T>A , CM000663.2:g.103022976T>A | GRCh38 |
| NC_000001.10:g.103488532T>A , CM000663.1:g.103488532T>A | GRCh37 |
| NC_000001.9:g.103261120T>A | NCBI36 |
| NG_008033.1:g.90521A>T | |
| NG_008033.2:g.90521A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.1011A>T MANE Select | ENSP00000359114.3:p.Ile337= | |
| ENST00000461720.6:c.1164A>T | ENSP00000494909.1:p.Ile388= | |
| ENST00000644186.1:c.1011A>T | ENSP00000493821.1:p.Ile337= | |
| ENST00000645458.1:c.1011A>T | ENSP00000494179.1:p.Ile337= | |
| ENST00000647280.1:c.1011A>T | ENSP00000494583.1:p.Ile337= | |
| ENST00000353414.8:c.894A>T | ENSP00000302551.6:p.Ile298= | |
| ENST00000358392.6:c.1047A>T | ENSP00000351163.2:p.Ile349= | |
| ENST00000370096.7:c.1011A>T | ENSP00000359114.3:p.Ile337= | |
| ENST00000427239.5:c.1047A>T | ENSP00000408640.1:p.Ile349= | |
| ENST00000512756.5:c.898-1207A>T | ENSP00000426533.1:n.898-1207A>T | |
| ENST00000635193.1:c.329A>T | ||
| NM_001190709.1:c.894A>T | NP_001177638.1:p.Ile298= | |
| NM_001854.3:c.1011A>T | NP_001845.3:p.Ile337= | |
| NM_080629.2:c.1047A>T | NP_542196.2:p.Ile349= | |
| NM_080630.3:c.898-1207A>T | NP_542197.3:n.898-1207A>T | |
| XM_011540719.1:c.1011A>T | XP_011539021.1:p.Ile337= | |
| XM_011540721.1:c.-1418A>T | XP_011539023.1:n.-1418A>T | |
| XR_946545.1:n.1409A>T | ||
| NR_134980.1:n.1329A>T | ||
| XM_017000334.1:c.1164A>T | XP_016855823.1:p.Ile388= | |
| XM_017000335.1:c.1158A>T | XP_016855824.1:p.Ile386= | |
| XM_017000336.1:c.1164A>T | XP_016855825.1:p.Ile388= | |
| NM_001854.4:c.1011A>T MANE Select | NP_001845.3:p.Ile337= | |
| NM_080630.4:c.898-1207A>T | NP_542197.3:n.898-1207A>T | |
| NR_134980.2:n.1355A>T | ||
| NM_001190709.2:c.894A>T | NP_001177638.1:p.Ile298= | |
| NM_080629.3:c.1047A>T | NP_542196.2:p.Ile349= |