Linked Data
ClinVar Variation Id:
165315
dbSNP Id:
rs727503444
ExAC:
15:43900289 G / A
gnomAD v2:
15-43900289-G-A
gnomAD v3:
15-43608091-G-A
gnomAD v4:
15-43608091-G-A
COSMIC:
COSM962037
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43608091G>A , CM000677.2:g.43608091G>A | GRCh38 |
| NC_000015.9:g.43900289G>A , CM000677.1:g.43900289G>A | GRCh37 |
| NC_000015.8:g.41687581G>A | NCBI36 |
| NG_011636.1:g.15710C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.3670C>T MANE Select | ENSP00000401513.2:p.Arg1224Ter | |
| ENST00000428650.5:c.*702C>T | ENSP00000415991.1:n.*702C>T | |
| ENST00000440125.5:c.*1462C>T | ENSP00000394866.1:n.*1462C>T | |
| ENST00000448437.6:n.1541C>T | ||
| ENST00000450892.6:c.3670C>T | ENSP00000401513.2:p.Arg1224Ter | |
| ENST00000455136.5:c.701C>T | ||
| ENST00000471703.5:n.1453C>T | ||
| ENST00000485556.5:n.2661C>T | ||
| ENST00000541030.5:c.1351C>T | ENSP00000440413.1:p.Arg451Ter | |
| NM_153700.2:c.3670C>T MANE Select | NP_714544.1:p.Arg1224Ter | |
| XM_011521277.1:c.4159C>T | XP_011519579.1:p.Arg1387Ter | |
| XM_011521278.1:c.3775C>T | XP_011519580.1:p.Arg1259Ter | |
| XM_011521279.1:c.3775C>T | XP_011519581.1:p.Arg1259Ter |