Linked Data
ClinVar Variation Id:
189138
ClinVar RCV Id:
RCV003947448
dbSNP Id:
rs786204724
gnomAD v4:
4-186285646-C-A
PubMed:
PMID:22159456
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186285646C>A , CM000666.2:g.186285646C>A | GRCh38 |
| NC_000004.11:g.187206800C>A , CM000666.1:g.187206800C>A | GRCh37 |
| NC_000004.10:g.187443794C>A | NCBI36 |
| NG_008051.1:g.24683C>A , LRG_583:g.24683C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403665.7:c.1313C>A MANE Select | ENSP00000384957.2:p.Ser438Ter | |
| ENST00000264691.4:c.9C>A | ||
| ENST00000264692.8:c.1151C>A | ENSP00000264692.5:p.Ser384Ter | |
| ENST00000403665.6:c.1313C>A | ENSP00000384957.2:p.Ser438Ter | |
| NM_000128.3:c.1313C>A , LRG_583t1:c.1313C>A | NP_000119.1:p.Ser438Ter | |
| XM_005262821.2:c.1316C>A | XP_005262878.1:p.Ser439Ter | |
| XM_005262822.2:c.1316C>A | XP_005262879.1:p.Ser439Ter | |
| XM_005262823.2:c.1046C>A | XP_005262880.1:p.Ser349Ter | |
| XM_005262824.1:c.1316C>A | XP_005262881.1:p.Ser439Ter | |
| XM_006714137.1:c.1268C>A | XP_006714200.1:p.Ser423Ter | |
| XR_938706.1:n.1721C>A | ||
| XR_938707.1:n.1721C>A | ||
| XM_005262821.4:c.1316C>A | XP_005262878.1:p.Ser439Ter | |
| XM_005262822.4:c.1316C>A | XP_005262879.1:p.Ser439Ter | |
| XM_005262823.4:c.1046C>A | XP_005262880.1:p.Ser349Ter | |
| XM_006714137.3:c.1268C>A | XP_006714200.1:p.Ser423Ter | |
| XR_001741172.2:n.1787C>A | ||
| NM_000128.4:c.1313C>A MANE Select | NP_000119.1:p.Ser438Ter |