Linked Data
ClinVar Variation Id:
518271
dbSNP Id:
rs372212766
ExAC:
18:19371521 A / G
gnomAD v2:
18-19371521-A-G
gnomAD v3:
18-21791560-A-G
gnomAD v4:
18-21791560-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.21791560A>G , CM000680.2:g.21791560A>G | GRCh38 |
| NC_000018.9:g.19371521A>G , CM000680.1:g.19371521A>G | GRCh37 |
| NC_000018.8:g.17625519A>G | NCBI36 |
| NG_033272.2:g.91604A>G , LRG_759:g.91604A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261537.7:c.1092+3A>G MANE Select | ENSP00000261537.6:n.1092+3A>G | |
| ENST00000261537.6:c.1092+3A>G | ENSP00000261537.6:n.1092+3A>G | |
| ENST00000578646.5:n.1069+3A>G | ||
| NM_020774.3:c.1092+3A>G , LRG_759t1:c.1092+3A>G | NP_065825.1:n.1092+3A>G | |
| XR_935234.1:n.1883+3A>G | ||
| XR_935235.1:n.1883+3A>G | ||
| XM_017025873.1:c.576+3A>G | XP_016881362.1:n.576+3A>G | |
| XM_017025874.1:c.1092+3A>G | XP_016881363.1:n.1092+3A>G | |
| XM_017025875.1:c.1092+3A>G | XP_016881364.1:n.1092+3A>G | |
| NM_020774.4:c.1092+3A>G MANE Select | NP_065825.1:n.1092+3A>G |