Linked Data
dbSNP Id:
rs199541645
ExAC:
4:187195398 G / A
gnomAD v2:
4-187195398-G-A
gnomAD v3:
4-186274244-G-A
gnomAD v4:
4-186274244-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186274244G>A , CM000666.2:g.186274244G>A | GRCh38 |
| NC_000004.11:g.187195398G>A , CM000666.1:g.187195398G>A | GRCh37 |
| NC_000004.10:g.187432392G>A | NCBI36 |
| NG_008051.1:g.13281G>A , LRG_583:g.13281G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.454G>A MANE Select | ENSP00000384957.2:p.Ala152Thr | |
| ENST00000264692.8:c.323+1069G>A | ENSP00000264692.5:n.323+1069G>A | |
| ENST00000403665.6:c.454G>A | ENSP00000384957.2:p.Ala152Thr | |
| ENST00000492972.6:c.454G>A | ENSP00000424479.1:p.Ala152Thr | |
| ENST00000514715.1:n.326G>A | ||
| NM_000128.3:c.454G>A , LRG_583t1:c.454G>A | NP_000119.1:p.Ala152Thr | |
| XM_005262821.2:c.454G>A | XP_005262878.1:p.Ala152Thr | |
| XM_005262822.2:c.454G>A | XP_005262879.1:p.Ala152Thr | |
| XM_005262823.2:c.454G>A | XP_005262880.1:p.Ala152Thr | |
| XM_005262824.1:c.454G>A | XP_005262881.1:p.Ala152Thr | |
| XM_006714137.1:c.454G>A | XP_006714200.1:p.Ala152Thr | |
| XR_938706.1:n.806G>A | ||
| XR_938707.1:n.806G>A | ||
| NM_001354804.1:c.454G>A | NP_001341733.1:p.Ala152Thr | |
| XM_005262821.4:c.454G>A | XP_005262878.1:p.Ala152Thr | |
| XM_005262822.4:c.454G>A | XP_005262879.1:p.Ala152Thr | |
| XM_005262823.4:c.454G>A | XP_005262880.1:p.Ala152Thr | |
| XM_006714137.3:c.454G>A | XP_006714200.1:p.Ala152Thr | |
| XM_017007884.2:c.454G>A | XP_016863373.1:p.Ala152Thr | |
| XM_017007885.2:c.454G>A | XP_016863374.1:p.Ala152Thr | |
| XM_017007886.2:c.454G>A | XP_016863375.1:p.Ala152Thr | |
| XR_001741172.2:n.787G>A | ||
| NM_000128.4:c.454G>A MANE Select | NP_000119.1:p.Ala152Thr | |
| NM_001354804.2:c.454G>A | NP_001341733.1:p.Ala152Thr |