Linked Data
ClinVar Variation Id:
514144
dbSNP Id:
rs757518044
ExAC:
18:19321772 C / G
gnomAD v2:
18-19321772-C-G
gnomAD v3:
18-21741811-C-G
gnomAD v4:
18-21741811-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.21741811C>G , CM000680.2:g.21741811C>G | GRCh38 |
| NC_000018.9:g.19321772C>G , CM000680.1:g.19321772C>G | GRCh37 |
| NC_000018.8:g.17575770C>G | NCBI36 |
| NG_033272.2:g.41855C>G , LRG_759:g.41855C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261537.7:c.228C>G MANE Select | ENSP00000261537.6:p.Thr76= | |
| ENST00000261537.6:c.228C>G | ENSP00000261537.6:p.Thr76= | |
| ENST00000578646.5:n.168-23961C>G | ||
| NM_020774.3:c.228C>G , LRG_759t1:c.228C>G | NP_065825.1:p.Thr76= | |
| XR_935234.1:n.1019C>G | ||
| XR_935235.1:n.1019C>G | ||
| XM_017025874.1:c.228C>G | XP_016881363.1:p.Thr76= | |
| XM_017025875.1:c.228C>G | XP_016881364.1:p.Thr76= | |
| NM_020774.4:c.228C>G MANE Select | NP_065825.1:p.Thr76= |