Linked Data
ClinVar Variation Id:
1551091
ClinVar RCV Id:
RCV002192186
dbSNP Id:
rs2126757908
MyVariant Identifiers:
chr4:g.187201432T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186280278T>C , CM000666.2:g.186280278T>C | GRCh38 |
| NC_000004.11:g.187201432T>C , CM000666.1:g.187201432T>C | GRCh37 |
| NC_000004.10:g.187438426T>C | NCBI36 |
| NG_008051.1:g.19315T>C , LRG_583:g.19315T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.921T>C MANE Select | ENSP00000384957.2:p.Asp307= | |
| ENST00000264692.8:c.759T>C | ENSP00000264692.5:p.Asp253= | |
| ENST00000403665.6:c.921T>C | ENSP00000384957.2:p.Asp307= | |
| ENST00000452239.1:c.368T>C | ||
| NM_000128.3:c.921T>C , LRG_583t1:c.921T>C | NP_000119.1:p.Asp307= | |
| XM_005262821.2:c.921T>C | XP_005262878.1:p.Asp307= | |
| XM_005262822.2:c.921T>C | XP_005262879.1:p.Asp307= | |
| XM_005262823.2:c.651T>C | XP_005262880.1:p.Asp217= | |
| XM_005262824.1:c.921T>C | XP_005262881.1:p.Asp307= | |
| XM_006714137.1:c.873T>C | XP_006714200.1:p.Asp291= | |
| XR_938706.1:n.1273T>C | ||
| XR_938707.1:n.1273T>C | ||
| XM_005262821.4:c.921T>C | XP_005262878.1:p.Asp307= | |
| XM_005262822.4:c.921T>C | XP_005262879.1:p.Asp307= | |
| XM_005262823.4:c.651T>C | XP_005262880.1:p.Asp217= | |
| XM_006714137.3:c.873T>C | XP_006714200.1:p.Asp291= | |
| XM_017007884.2:c.921T>C | XP_016863373.1:p.Asp307= | |
| XM_017007885.2:c.921T>C | XP_016863374.1:p.Asp307= | |
| XM_017007886.2:c.921T>C | XP_016863375.1:p.Asp307= | |
| XR_001741172.2:n.1254T>C | ||
| NM_000128.4:c.921T>C MANE Select | NP_000119.1:p.Asp307= |