Linked Data
ClinVar Variation Id:
1141692
dbSNP Id:
rs568173895
ExAC:
4:187205365 T / A
gnomAD v2:
4-187205365-T-A
gnomAD v3:
4-186284211-T-A
gnomAD v4:
4-186284211-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186284211T>A , CM000666.2:g.186284211T>A | GRCh38 |
| NC_000004.11:g.187205365T>A , CM000666.1:g.187205365T>A | GRCh37 |
| NC_000004.10:g.187442359T>A | NCBI36 |
| NG_008051.1:g.23248T>A , LRG_583:g.23248T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403665.7:c.1255T>A MANE Select | ENSP00000384957.2:p.Ser419Thr | |
| ENST00000264692.8:c.1093T>A | ENSP00000264692.5:p.Ser365Thr | |
| ENST00000403665.6:c.1255T>A | ENSP00000384957.2:p.Ser419Thr | |
| NM_000128.3:c.1255T>A , LRG_583t1:c.1255T>A | NP_000119.1:p.Ser419Thr | |
| XM_005262821.2:c.1258T>A | XP_005262878.1:p.Ser420Thr | |
| XM_005262822.2:c.1258T>A | XP_005262879.1:p.Ser420Thr | |
| XM_005262823.2:c.988T>A | XP_005262880.1:p.Ser330Thr | |
| XM_005262824.1:c.1258T>A | XP_005262881.1:p.Ser420Thr | |
| XM_006714137.1:c.1210T>A | XP_006714200.1:p.Ser404Thr | |
| XR_938706.1:n.1663T>A | ||
| XR_938707.1:n.1663T>A | ||
| XM_005262821.4:c.1258T>A | XP_005262878.1:p.Ser420Thr | |
| XM_005262822.4:c.1258T>A | XP_005262879.1:p.Ser420Thr | |
| XM_005262823.4:c.988T>A | XP_005262880.1:p.Ser330Thr | |
| XM_006714137.3:c.1210T>A | XP_006714200.1:p.Ser404Thr | |
| XR_001741172.2:n.1729T>A | ||
| NM_000128.4:c.1255T>A MANE Select | NP_000119.1:p.Ser419Thr |