Linked Data
ClinVar Variation Id:
137061
dbSNP Id:
rs370847523
ExAC:
11:1778548 G / A
gnomAD v2:
11-1778548-G-A
gnomAD v3:
11-1757318-G-A
gnomAD v4:
11-1757318-G-A
MyVariant Identifiers:
chr11:g.1778548G>A (hg19)
chr11:g.1778548_1778549delinsAC (hg19)
chr11:g.1757318G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1757318G>A , CM000673.2:g.1757318G>A | GRCh38 |
| NC_000011.9:g.1778548G>A , CM000673.1:g.1778548G>A | GRCh37 |
| NC_000011.8:g.1735124G>A | NCBI36 |
| NG_008655.1:g.11675C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.704+6C>T MANE Select | ENSP00000236671.2:n.704+6C>T | |
| ENST00000367196.4:c.599+6C>T | ENSP00000356164.4:n.599+6C>T | |
| ENST00000427721.3:c.129+6C>T | ||
| ENST00000429746.2:c.599+6C>T | ENSP00000402586.2:n.599+6C>T | |
| ENST00000433655.6:c.704+6C>T | ENSP00000404902.1:n.704+6C>T | |
| ENST00000438213.6:c.704+6C>T | ENSP00000415036.2:n.704+6C>T | |
| ENST00000636397.1:c.704+6C>T | ENSP00000489910.1:n.704+6C>T | |
| ENST00000636571.1:c.683+6C>T | ENSP00000490770.1:n.683+6C>T | |
| ENST00000636615.1:c.704+6C>T | ENSP00000490014.1:n.704+6C>T | |
| ENST00000636843.1:c.698+6C>T | ENSP00000490897.1:n.698+6C>T | |
| ENST00000637158.1:n.302+6C>T | ||
| ENST00000637381.2:n.3132+6C>T | ||
| ENST00000637387.1:c.704+6C>T | ENSP00000490598.1:n.704+6C>T | |
| ENST00000637815.2:c.704+6C>T | ENSP00000490344.1:n.704+6C>T | |
| ENST00000637915.1:c.704+6C>T | ENSP00000490471.1:n.704+6C>T | |
| ENST00000678991.1:c.*565+6C>T | ENSP00000503019.1:n.*565+6C>T | |
| ENST00000236671.6:c.704+6C>T | ENSP00000236671.2:n.704+6C>T | |
| ENST00000427721.2:c.104+6C>T | ENSP00000415840.2:n.104+6C>T | |
| ENST00000433655.5:c.704+6C>T | ENSP00000404902.1:n.704+6C>T | |
| ENST00000438213.5:c.659+6C>T | ENSP00000415036.1:n.659+6C>T | |
| NM_001909.4:c.704+6C>T | NP_001900.1:n.704+6C>T | |
| NM_001909.5:c.704+6C>T MANE Select | NP_001900.1:n.704+6C>T |