Linked Data
ClinVar Variation Id:
285586
ClinVar RCV Id:
RCV000297808
dbSNP Id:
rs886043146
gnomAD v4:
18-2705693-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.2705693G>A , CM000680.2:g.2705693G>A | GRCh38 |
| NC_000018.9:g.2705691G>A , CM000680.1:g.2705691G>A | GRCh37 |
| NC_000018.8:g.2695691G>A | NCBI36 |
| NG_031972.1:g.54806G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684915.1:n.2000-1G>A | ||
| ENST00000688342.1:c.1843-1G>A | ENSP00000508422.1:n.1843-1G>A | |
| ENST00000693213.1:n.1121-1G>A | ||
| ENST00000320876.11:c.1843-1G>A MANE Select | ENSP00000326603.7:n.1843-1G>A | |
| ENST00000320876.10:c.1843-1G>A | ENSP00000326603.6:n.1843-1G>A | |
| ENST00000577300.1:n.194-1G>A | ||
| ENST00000577880.5:c.256-1G>A | ENSP00000463049.1:n.256-1G>A | |
| NM_015295.2:c.1843-1G>A | NP_056110.2:n.1843-1G>A | |
| XM_011525642.1:c.1843-1G>A | XP_011523944.1:n.1843-1G>A | |
| XM_011525643.1:c.1843-1G>A | XP_011523945.1:n.1843-1G>A | |
| XM_011525644.1:c.1459-1G>A | XP_011523946.1:n.1459-1G>A | |
| XM_011525645.1:c.1279-1G>A | XP_011523947.1:n.1279-1G>A | |
| XM_011525646.1:c.1843-1G>A | XP_011523948.1:n.1843-1G>A | |
| XM_011525647.1:c.1843-1G>A | XP_011523949.1:n.1843-1G>A | |
| XR_430039.1:n.2032-1G>A | ||
| XR_935054.1:n.2032-1G>A | ||
| XR_935055.1:n.2032-1G>A | ||
| XM_011525643.2:c.1843-1G>A | XP_011523945.1:n.1843-1G>A | |
| XM_017025684.1:c.1279-1G>A | XP_016881173.1:n.1279-1G>A | |
| XR_001753172.1:n.2032-1G>A | ||
| XR_001753173.1:n.2032-1G>A | ||
| XR_001753174.1:n.2032-1G>A | ||
| XR_001753175.1:n.2032-1G>A | ||
| XR_001753176.1:n.2032-1G>A | ||
| XR_001753177.1:n.2032-1G>A | ||
| XR_001753178.1:n.2032-1G>A | ||
| XR_001753179.1:n.2032-1G>A | ||
| XR_935055.2:n.2032-1G>A | ||
| NM_015295.3:c.1843-1G>A MANE Select | NP_056110.2:n.1843-1G>A |