Linked Data
ClinVar Variation Id:
1086753
dbSNP Id:
rs145927314
ExAC:
4:187205289 G / A
gnomAD v2:
4-187205289-G-A
gnomAD v3:
4-186284135-G-A
gnomAD v4:
4-186284135-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186284135G>A , CM000666.2:g.186284135G>A | GRCh38 |
| NC_000004.11:g.187205289G>A , CM000666.1:g.187205289G>A | GRCh37 |
| NC_000004.10:g.187442283G>A | NCBI36 |
| NG_008051.1:g.23172G>A , LRG_583:g.23172G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1179G>A MANE Select | ENSP00000384957.2:p.Ala393= | |
| ENST00000264692.8:c.1017G>A | ENSP00000264692.5:p.Ala339= | |
| ENST00000403665.6:c.1179G>A | ENSP00000384957.2:p.Ala393= | |
| NM_000128.3:c.1179G>A , LRG_583t1:c.1179G>A | NP_000119.1:p.Ala393= | |
| XM_005262821.2:c.1182G>A | XP_005262878.1:p.Ala394= | |
| XM_005262822.2:c.1182G>A | XP_005262879.1:p.Ala394= | |
| XM_005262823.2:c.912G>A | XP_005262880.1:p.Ala304= | |
| XM_005262824.1:c.1182G>A | XP_005262881.1:p.Ala394= | |
| XM_006714137.1:c.1134G>A | XP_006714200.1:p.Ala378= | |
| XR_938706.1:n.1587G>A | ||
| XR_938707.1:n.1587G>A | ||
| XM_005262821.4:c.1182G>A | XP_005262878.1:p.Ala394= | |
| XM_005262822.4:c.1182G>A | XP_005262879.1:p.Ala394= | |
| XM_005262823.4:c.912G>A | XP_005262880.1:p.Ala304= | |
| XM_006714137.3:c.1134G>A | XP_006714200.1:p.Ala378= | |
| XM_017007884.2:c.*2151G>A | XP_016863373.1:n.*2151G>A | |
| XM_017007885.2:c.*47G>A | XP_016863374.1:n.*47G>A | |
| XR_001741172.2:n.1653G>A | ||
| NM_000128.4:c.1179G>A MANE Select | NP_000119.1:p.Ala393= |