Linked Data
ClinVar Variation Id:
1634786
ClinVar RCV Id:
RCV002130857
dbSNP Id:
rs2126740783
gnomAD v4:
4-186276398-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186276398G>T , CM000666.2:g.186276398G>T | GRCh38 |
| NC_000004.11:g.187197552G>T , CM000666.1:g.187197552G>T | GRCh37 |
| NC_000004.10:g.187434546G>T | NCBI36 |
| NG_008051.1:g.15435G>T , LRG_583:g.15435G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.755+8G>T MANE Select | ENSP00000384957.2:n.755+8G>T | |
| ENST00000264692.8:c.593+8G>T | ENSP00000264692.5:n.593+8G>T | |
| ENST00000403665.6:c.755+8G>T | ENSP00000384957.2:n.755+8G>T | |
| ENST00000452239.1:c.202+8G>T | ||
| NM_000128.3:c.755+8G>T , LRG_583t1:c.755+8G>T | NP_000119.1:n.755+8G>T | |
| XM_005262821.2:c.755+8G>T | XP_005262878.1:n.755+8G>T | |
| XM_005262822.2:c.755+8G>T | XP_005262879.1:n.755+8G>T | |
| XM_005262823.2:c.485+2123G>T | XP_005262880.1:n.485+2123G>T | |
| XM_005262824.1:c.755+8G>T | XP_005262881.1:n.755+8G>T | |
| XM_006714137.1:c.755+8G>T | XP_006714200.1:n.755+8G>T | |
| XR_938706.1:n.1107+8G>T | ||
| XR_938707.1:n.1107+8G>T | ||
| XM_005262821.4:c.755+8G>T | XP_005262878.1:n.755+8G>T | |
| XM_005262822.4:c.755+8G>T | XP_005262879.1:n.755+8G>T | |
| XM_005262823.4:c.485+2123G>T | XP_005262880.1:n.485+2123G>T | |
| XM_006714137.3:c.755+8G>T | XP_006714200.1:n.755+8G>T | |
| XM_017007884.2:c.755+8G>T | XP_016863373.1:n.755+8G>T | |
| XM_017007885.2:c.755+8G>T | XP_016863374.1:n.755+8G>T | |
| XM_017007886.2:c.755+8G>T | XP_016863375.1:n.755+8G>T | |
| XR_001741172.2:n.1088+8G>T | ||
| NM_000128.4:c.755+8G>T MANE Select | NP_000119.1:n.755+8G>T |