Linked Data
ClinVar Variation Id:
506511
dbSNP Id:
rs192282083
ExAC:
18:19359494 A / C
gnomAD v2:
18-19359494-A-C
gnomAD v3:
18-21779533-A-C
gnomAD v4:
18-21779533-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.21779533A>C , CM000680.2:g.21779533A>C | GRCh38 |
| NC_000018.9:g.19359494A>C , CM000680.1:g.19359494A>C | GRCh37 |
| NC_000018.8:g.17613492A>C | NCBI36 |
| NG_033272.2:g.79577A>C , LRG_759:g.79577A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261537.7:c.756A>C MANE Select | ENSP00000261537.6:p.Val252= | |
| ENST00000261537.6:c.756A>C | ENSP00000261537.6:p.Val252= | |
| ENST00000578646.5:n.694A>C | ||
| NM_020774.3:c.756A>C , LRG_759t1:c.756A>C | NP_065825.1:p.Val252= | |
| XR_935234.1:n.1547A>C | ||
| XR_935235.1:n.1547A>C | ||
| XM_017025873.1:c.240A>C | XP_016881362.1:p.Val80= | |
| XM_017025874.1:c.756A>C | XP_016881363.1:p.Val252= | |
| XM_017025875.1:c.756A>C | XP_016881364.1:p.Val252= | |
| NM_020774.4:c.756A>C MANE Select | NP_065825.1:p.Val252= |