Linked Data
ClinVar Variation Id:
2491440
ClinVar RCV Id:
RCV003212721
dbSNP Id:
rs144674776
gnomAD v3:
4-186274257-T-C
gnomAD v4:
4-186274257-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186274257T>C , CM000666.2:g.186274257T>C | GRCh38 |
| NC_000004.11:g.187195411T>C , CM000666.1:g.187195411T>C | GRCh37 |
| NC_000004.10:g.187432405T>C | NCBI36 |
| NG_008051.1:g.13294T>C , LRG_583:g.13294T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.467T>C MANE Select | ENSP00000384957.2:p.Phe156Ser | |
| ENST00000264692.8:c.323+1082T>C | ENSP00000264692.5:n.323+1082T>C | |
| ENST00000403665.6:c.467T>C | ENSP00000384957.2:p.Phe156Ser | |
| ENST00000492972.6:c.467T>C | ENSP00000424479.1:p.Phe156Ser | |
| ENST00000514715.1:n.339T>C | ||
| NM_000128.3:c.467T>C , LRG_583t1:c.467T>C | NP_000119.1:p.Phe156Ser | |
| XM_005262821.2:c.467T>C | XP_005262878.1:p.Phe156Ser | |
| XM_005262822.2:c.467T>C | XP_005262879.1:p.Phe156Ser | |
| XM_005262823.2:c.467T>C | XP_005262880.1:p.Phe156Ser | |
| XM_005262824.1:c.467T>C | XP_005262881.1:p.Phe156Ser | |
| XM_006714137.1:c.467T>C | XP_006714200.1:p.Phe156Ser | |
| XR_938706.1:n.819T>C | ||
| XR_938707.1:n.819T>C | ||
| NM_001354804.1:c.467T>C | NP_001341733.1:p.Phe156Ser | |
| XM_005262821.4:c.467T>C | XP_005262878.1:p.Phe156Ser | |
| XM_005262822.4:c.467T>C | XP_005262879.1:p.Phe156Ser | |
| XM_005262823.4:c.467T>C | XP_005262880.1:p.Phe156Ser | |
| XM_006714137.3:c.467T>C | XP_006714200.1:p.Phe156Ser | |
| XM_017007884.2:c.467T>C | XP_016863373.1:p.Phe156Ser | |
| XM_017007885.2:c.467T>C | XP_016863374.1:p.Phe156Ser | |
| XM_017007886.2:c.467T>C | XP_016863375.1:p.Phe156Ser | |
| XR_001741172.2:n.800T>C | ||
| NM_000128.4:c.467T>C MANE Select | NP_000119.1:p.Phe156Ser | |
| NM_001354804.2:c.467T>C | NP_001341733.1:p.Phe156Ser |