Linked Data
ClinVar Variation Id:
3091385
ClinVar RCV Id:
RCV004385771
dbSNP Id:
rs1039926676
gnomAD v3:
4-186280366-G-A
gnomAD v4:
4-186280366-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186280366G>A , CM000666.2:g.186280366G>A | GRCh38 |
| NC_000004.11:g.187201520G>A , CM000666.1:g.187201520G>A | GRCh37 |
| NC_000004.10:g.187438514G>A | NCBI36 |
| NG_008051.1:g.19403G>A , LRG_583:g.19403G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1009G>A MANE Select | ENSP00000384957.2:p.Ala337Thr | |
| ENST00000264692.8:c.847G>A | ENSP00000264692.5:p.Ala283Thr | |
| ENST00000403665.6:c.1009G>A | ENSP00000384957.2:p.Ala337Thr | |
| ENST00000452239.1:c.456G>A | ||
| NM_000128.3:c.1009G>A , LRG_583t1:c.1009G>A | NP_000119.1:p.Ala337Thr | |
| XM_005262821.2:c.1009G>A | XP_005262878.1:p.Ala337Thr | |
| XM_005262822.2:c.1009G>A | XP_005262879.1:p.Ala337Thr | |
| XM_005262823.2:c.739G>A | XP_005262880.1:p.Ala247Thr | |
| XM_005262824.1:c.1009G>A | XP_005262881.1:p.Ala337Thr | |
| XM_006714137.1:c.961G>A | XP_006714200.1:p.Ala321Thr | |
| XR_938706.1:n.1361G>A | ||
| XR_938707.1:n.1361G>A | ||
| XM_005262821.4:c.1009G>A | XP_005262878.1:p.Ala337Thr | |
| XM_005262822.4:c.1009G>A | XP_005262879.1:p.Ala337Thr | |
| XM_005262823.4:c.739G>A | XP_005262880.1:p.Ala247Thr | |
| XM_006714137.3:c.961G>A | XP_006714200.1:p.Ala321Thr | |
| XM_017007884.2:c.1009G>A | XP_016863373.1:p.Ala337Thr | |
| XM_017007885.2:c.1009G>A | XP_016863374.1:p.Ala337Thr | |
| XM_017007886.2:c.1009G>A | XP_016863375.1:p.Ala337Thr | |
| XR_001741172.2:n.1342G>A | ||
| NM_000128.4:c.1009G>A MANE Select | NP_000119.1:p.Ala337Thr |