Linked Data
ClinVar Variation Id:
227965
dbSNP Id:
rs199524735
ExAC:
15:43901491 A / C
gnomAD v2:
15-43901491-A-C
gnomAD v3:
15-43609293-A-C
gnomAD v4:
15-43609293-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43609293A>C , CM000677.2:g.43609293A>C | GRCh38 |
| NC_000015.9:g.43901491A>C , CM000677.1:g.43901491A>C | GRCh37 |
| NC_000015.8:g.41688783A>C | NCBI36 |
| NG_011636.1:g.14508T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.3540T>G MANE Select | ENSP00000401513.2:p.Leu1180= | |
| ENST00000428650.5:c.*572T>G | ENSP00000415991.1:n.*572T>G | |
| ENST00000440125.5:c.*1332T>G | ENSP00000394866.1:n.*1332T>G | |
| ENST00000448437.6:n.1411T>G | ||
| ENST00000450892.6:c.3540T>G | ENSP00000401513.2:p.Leu1180= | |
| ENST00000455136.5:c.571T>G | ||
| ENST00000471703.5:n.1323T>G | ||
| ENST00000485556.5:n.2531T>G | ||
| ENST00000541030.5:c.1221T>G | ENSP00000440413.1:p.Leu407= | |
| NM_153700.2:c.3540T>G MANE Select | NP_714544.1:p.Leu1180= | |
| XM_011521277.1:c.4029T>G | XP_011519579.1:p.Leu1343= | |
| XM_011521278.1:c.3645T>G | XP_011519580.1:p.Leu1215= | |
| XM_011521279.1:c.3645T>G | XP_011519581.1:p.Leu1215= |