Linked Data
ClinVar Variation Id:
217633
ClinVar RCV Id:
RCV000201753
dbSNP Id:
rs863225187
gnomAD v4:
12-88055597-G-T
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88055597G>T , CM000674.2:g.88055597G>T | GRCh38 |
| NC_000012.11:g.88449374G>T , CM000674.1:g.88449374G>T | GRCh37 |
| NC_000012.10:g.86973505G>T | NCBI36 |
| NG_008417.1:g.91620C>A | |
| NG_008417.2:g.91620C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.6948C>A | ENSP00000308021.8:p.Tyr2316Ter | |
| ENST00000547691.8:c.3930-1184C>A | ||
| ENST00000552810.6:c.6939C>A MANE Select | ENSP00000448012.1:p.Tyr2313Ter | |
| ENST00000671777.2:n.718C>A | ||
| ENST00000672414.2:c.*4945C>A | ENSP00000500729.1:n.*4945C>A | |
| ENST00000672647.1:n.5299C>A | ||
| ENST00000673058.2:c.6816C>A | ENSP00000500665.2:p.Tyr2272Ter | |
| ENST00000674712.1:n.466C>A | ||
| ENST00000674889.1:n.3892C>A | ||
| ENST00000674971.1:c.6939C>A | ENSP00000502194.1:p.Tyr2313Ter | |
| ENST00000675230.1:c.6918C>A | ENSP00000502503.1:p.Tyr2306Ter | |
| ENST00000675408.1:c.6774C>A | ENSP00000502298.1:p.Tyr2258Ter | |
| ENST00000675476.1:c.7800C>A | ENSP00000502161.1:p.Tyr2600Ter | |
| ENST00000675628.1:n.7166C>A | ||
| ENST00000675794.1:c.*5110C>A | ENSP00000502841.1:n.*5110C>A | |
| ENST00000675833.1:c.7707C>A | ENSP00000502559.1:p.Tyr2569Ter | |
| ENST00000675894.1:n.3244C>A | ||
| ENST00000676074.1:c.6774C>A | ENSP00000502079.1:p.Tyr2258Ter | |
| ENST00000676181.1:n.5867C>A | ||
| ENST00000676190.1:n.1378C>A | ||
| ENST00000676363.1:n.12665C>A | ||
| ENST00000309041.11:c.6945C>A | ENSP00000308021.7:p.Tyr2315Ter | |
| ENST00000547691.6:c.4119C>A | ENSP00000446905.1:p.Tyr1373Ter | |
| ENST00000552810.5:c.6939C>A | ENSP00000448012.1:p.Tyr2313Ter | |
| NM_025114.3:c.6939C>A | NP_079390.3:p.Tyr2313Ter | |
| XM_011538756.1:c.7809C>A | XP_011537058.1:p.Tyr2603Ter | |
| XM_011538757.1:c.7809C>A | XP_011537059.1:p.Tyr2603Ter | |
| XM_011538758.1:c.7806C>A | XP_011537060.1:p.Tyr2602Ter | |
| XM_011538759.1:c.7800C>A | XP_011537061.1:p.Tyr2600Ter | |
| XM_011538760.1:c.7686C>A | XP_011537062.1:p.Tyr2562Ter | |
| XM_011538761.1:c.7644C>A | XP_011537063.1:p.Tyr2548Ter | |
| XM_011538762.1:c.7041C>A | XP_011537064.1:p.Tyr2347Ter | |
| XM_011538763.1:c.6948C>A | XP_011537065.1:p.Tyr2316Ter | |
| XM_011538766.1:c.6270C>A | XP_011537068.1:p.Tyr2090Ter | |
| XR_945163.1:n.853+325G>T | ||
| XM_011538756.3:c.7809C>A | XP_011537058.1:p.Tyr2603Ter | |
| XM_011538757.3:c.7809C>A | XP_011537059.1:p.Tyr2603Ter | |
| XM_011538758.3:c.7806C>A | XP_011537060.1:p.Tyr2602Ter | |
| XM_011538759.2:c.7800C>A | XP_011537061.1:p.Tyr2600Ter | |
| XM_011538760.2:c.7686C>A | XP_011537062.1:p.Tyr2562Ter | |
| XM_011538761.2:c.7644C>A | XP_011537063.1:p.Tyr2548Ter | |
| XM_011538762.3:c.7041C>A | XP_011537064.1:p.Tyr2347Ter | |
| XM_011538763.3:c.6948C>A | XP_011537065.1:p.Tyr2316Ter | |
| XM_011538766.3:c.6270C>A | XP_011537068.1:p.Tyr2090Ter | |
| XM_017019980.2:c.7677C>A | XP_016875469.1:p.Tyr2559Ter | |
| XM_017019981.2:c.7635C>A | XP_016875470.1:p.Tyr2545Ter | |
| XM_017019982.1:c.7809C>A | XP_016875471.1:p.Tyr2603Ter | |
| XM_017019983.2:c.6927C>A | XP_016875472.1:p.Tyr2309Ter | |
| XR_001748869.1:n.8144C>A | ||
| XR_001748870.2:n.7979C>A | ||
| NM_025114.4:c.6939C>A MANE Select | NP_079390.3:p.Tyr2313Ter |