Linked Data
ClinVar Variation Id:
41357
dbSNP Id:
rs80338869
ExAC:
15:44856873 G / A
gnomAD v2:
15-44856873-G-A
gnomAD v3:
15-44564675-G-A
gnomAD v4:
15-44564675-G-A
PubMed:
PMID:20301389
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44564675G>A , CM000677.2:g.44564675G>A | GRCh38 |
| NC_000015.9:g.44856873G>A , CM000677.1:g.44856873G>A | GRCh37 |
| NC_000015.8:g.42644165G>A | NCBI36 |
| NG_008885.1:g.104004C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558138.2:c.714C>T | ENSP00000453314.2:p.Tyr238= | |
| ENST00000559511.6:c.6546C>T | ENSP00000453246.2:p.Tyr2182= | |
| ENST00000682065.1:c.6879C>T | ENSP00000507025.1:p.Tyr2293= | |
| ENST00000682460.1:c.*3280C>T | ENSP00000508334.1:n.*3280C>T | |
| ENST00000682495.1:c.*3515C>T | ENSP00000507166.1:n.*3515C>T | |
| ENST00000682669.1:c.6822C>T | ENSP00000507782.1:p.Tyr2274= | |
| ENST00000683186.1:c.*3786C>T | ENSP00000507268.1:n.*3786C>T | |
| ENST00000683496.1:c.*665C>T | ENSP00000506968.1:n.*665C>T | |
| ENST00000683734.1:c.*973C>T | ENSP00000508319.1:n.*973C>T | |
| ENST00000683753.1:n.6069C>T | ||
| ENST00000684038.1:c.*3443C>T | ENSP00000507141.1:n.*3443C>T | |
| ENST00000684235.1:c.7023C>T | ENSP00000508295.1:p.Tyr2341= | |
| ENST00000261866.12:c.7023C>T MANE Select | ENSP00000261866.7:p.Tyr2341= | |
| ENST00000261866.11:c.7023C>T | ENSP00000261866.7:p.Tyr2341= | |
| ENST00000427534.6:c.6755-1374C>T | ENSP00000396110.2:n.6755-1374C>T | |
| ENST00000535302.6:c.6684C>T | ENSP00000445278.2:p.Tyr2228= | |
| ENST00000558138.1:c.714C>T | ENSP00000453314.1:p.Tyr238= | |
| ENST00000559511.5:c.1394C>T | ||
| ENST00000560299.1:n.315C>T | ||
| NM_001160227.1:c.6684C>T | NP_001153699.1:p.Tyr2228= | |
| NM_025137.3:c.7023C>T | NP_079413.3:p.Tyr2341= | |
| XM_005254695.3:c.6765C>T | XP_005254752.1:p.Tyr2255= | |
| XM_006720700.1:c.6879C>T | XP_006720763.1:p.Tyr2293= | |
| XM_017022634.1:c.6915C>T | XP_016878123.1:p.Tyr2305= | |
| XM_017022636.1:c.3900C>T | XP_016878125.1:p.Tyr1300= | |
| NM_025137.4:c.7023C>T MANE Select | NP_079413.3:p.Tyr2341= | |
| NM_001160227.2:c.6684C>T | NP_001153699.1:p.Tyr2228= |