Linked Data
ClinVar Variation Id:
1243747
ClinVar RCV Id:
RCV001645908
dbSNP Id:
rs11872184
gnomAD v2:
18-2739733-G-A
gnomAD v3:
18-2739735-G-A
gnomAD v4:
18-2739735-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.2739735G>A , CM000680.2:g.2739735G>A | GRCh38 |
| NC_000018.9:g.2739733G>A , CM000680.1:g.2739733G>A | GRCh37 |
| NC_000018.8:g.2729733G>A | NCBI36 |
| NG_031972.1:g.88848G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000583441.2:n.1200+215G>A | ||
| ENST00000686763.1:c.319+215G>A | ENSP00000510263.1:n.319+215G>A | |
| ENST00000686864.1:c.276+215G>A | ||
| ENST00000688342.1:c.3514+215G>A | ENSP00000508422.1:n.3514+215G>A | |
| ENST00000688708.1:n.2170+215G>A | ||
| ENST00000690757.1:n.971+215G>A | ||
| ENST00000693213.1:n.2792+215G>A | ||
| ENST00000320876.11:c.3514+215G>A MANE Select | ENSP00000326603.7:n.3514+215G>A | |
| ENST00000320876.10:c.3514+215G>A | ENSP00000326603.6:n.3514+215G>A | |
| ENST00000577880.5:c.1927+215G>A | ENSP00000463049.1:n.1927+215G>A | |
| ENST00000584897.5:c.1334+215G>A | ||
| NM_015295.2:c.3514+215G>A | NP_056110.2:n.3514+215G>A | |
| XM_011525642.1:c.3514+215G>A | XP_011523944.1:n.3514+215G>A | |
| XM_011525643.1:c.3514+215G>A | XP_011523945.1:n.3514+215G>A | |
| XM_011525644.1:c.3130+215G>A | XP_011523946.1:n.3130+215G>A | |
| XM_011525645.1:c.2950+215G>A | XP_011523947.1:n.2950+215G>A | |
| XM_011525646.1:c.3514+215G>A | XP_011523948.1:n.3514+215G>A | |
| XM_011525647.1:c.3514+215G>A | XP_011523949.1:n.3514+215G>A | |
| XR_430039.1:n.3703+215G>A | ||
| XR_935054.1:n.3703+215G>A | ||
| XR_935055.1:n.3703+215G>A | ||
| XM_011525643.2:c.3514+215G>A | XP_011523945.1:n.3514+215G>A | |
| XM_017025684.1:c.2950+215G>A | XP_016881173.1:n.2950+215G>A | |
| XR_001753172.1:n.3703+215G>A | ||
| XR_001753173.1:n.3703+215G>A | ||
| XR_001753174.1:n.3703+215G>A | ||
| XR_001753175.1:n.3703+215G>A | ||
| XR_001753176.1:n.3703+215G>A | ||
| XR_001753177.1:n.3703+215G>A | ||
| XR_001753178.1:n.3703+215G>A | ||
| XR_001753179.1:n.3703+215G>A | ||
| XR_935055.2:n.3703+215G>A | ||
| NM_015295.3:c.3514+215G>A MANE Select | NP_056110.2:n.3514+215G>A |