Linked Data
ClinVar Variation Id:
282635
ClinVar RCV Id:
RCV000361617
dbSNP Id:
rs886042442
gnomAD v2:
11-22294536-G-A
gnomAD v4:
11-22272990-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22272990G>A , CM000673.2:g.22272990G>A | GRCh38 |
| NC_000011.9:g.22294536G>A , CM000673.1:g.22294536G>A | GRCh37 |
| NC_000011.8:g.22251112G>A | NCBI36 |
| NG_015844.1:g.84815G>A , LRG_868:g.84815G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000532043.2:n.252+1G>A | ||
| ENST00000682266.1:c.1785+1G>A | ENSP00000507766.1:n.1785+1G>A | |
| ENST00000682341.1:c.2193+1G>A | ENSP00000508251.1:n.2193+1G>A | |
| ENST00000683197.1:c.2193+1G>A | ENSP00000507641.1:n.2193+1G>A | |
| ENST00000683411.1:c.1785+1G>A | ENSP00000508397.1:n.1785+1G>A | |
| ENST00000683437.1:c.1785+1G>A | ENSP00000508408.1:n.1785+1G>A | |
| ENST00000683613.1:n.3229+1G>A | ||
| ENST00000684663.1:c.2190+1G>A | ENSP00000508009.1:n.2190+1G>A | |
| ENST00000324559.9:c.2235+1G>A MANE Select | ENSP00000315371.9:n.2235+1G>A | |
| ENST00000648804.1:n.2570+1G>A | ||
| ENST00000324559.8:c.2235+1G>A | ENSP00000315371.8:n.2235+1G>A | |
| ENST00000532043.1:n.252+1G>A | ||
| NM_001142649.1:c.2232+1G>A | NP_001136121.1:n.2232+1G>A | |
| NM_213599.2:c.2235+1G>A , LRG_868t1:c.2235+1G>A | NP_998764.1:n.2235+1G>A | |
| XM_005252820.2:c.2193+1G>A | XP_005252877.2:n.2193+1G>A | |
| XM_005252821.2:c.2190+1G>A | XP_005252878.2:n.2190+1G>A | |
| XM_005252822.3:c.2157+1G>A | XP_005252879.1:n.2157+1G>A | |
| XM_005252823.3:c.2154+1G>A | XP_005252880.1:n.2154+1G>A | |
| XM_011519949.1:c.2142+1G>A | XP_011518251.1:n.2142+1G>A | |
| XM_005252820.3:c.2193+1G>A | XP_005252877.2:n.2193+1G>A | |
| XM_005252821.3:c.2190+1G>A | XP_005252878.2:n.2190+1G>A | |
| XM_005252822.4:c.2157+1G>A | XP_005252879.1:n.2157+1G>A | |
| XM_011519949.2:c.2142+1G>A | XP_011518251.1:n.2142+1G>A | |
| NM_001142649.2:c.2232+1G>A | NP_001136121.1:n.2232+1G>A | |
| NM_213599.3:c.2235+1G>A MANE Select | NP_998764.1:n.2235+1G>A |