Linked Data
ClinVar Variation Id:
38916
ClinVar RCV Id:
RCV000032164
RCV000394153
RCV000545340
RCV000350321
RCV001269497
RCV001731323
RCV002496488
dbSNP Id:
rs142777869
ExAC:
14:24709952 G / T
gnomAD v2:
14-24709952-G-T
gnomAD v3:
14-24240746-G-T
gnomAD v4:
14-24240746-G-T
PubMed:
PMID:20301779
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24240746G>T , CM000676.2:g.24240746G>T | GRCh38 |
| NC_000014.8:g.24709952G>T , CM000676.1:g.24709952G>T | GRCh37 |
| NC_000014.7:g.23779792G>T | NCBI36 |
| NG_016650.1:g.6929C>A | |
| NG_054634.1:g.13330G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557915.2:n.1037C>A | ||
| ENST00000557921.3:c.626C>A | ENSP00000453157.3:p.Ser209Tyr | |
| ENST00000699682.1:n.1124C>A | ||
| ENST00000699683.1:n.1174C>A | ||
| ENST00000699684.1:c.*327C>A | ENSP00000514523.1:n.*327C>A | |
| ENST00000699685.1:n.938C>A | ||
| ENST00000699686.1:c.527C>A | ENSP00000514524.1:p.Ser176Tyr | |
| ENST00000699687.1:c.629C>A | ENSP00000514525.1:p.Ser210Tyr | |
| ENST00000699688.1:n.934C>A | ||
| ENST00000699689.1:n.1290C>A | ||
| ENST00000699690.1:n.1487C>A | ||
| ENST00000699691.1:n.1631C>A | ||
| ENST00000699693.1:n.1151C>A | ||
| ENST00000699694.1:n.1393C>A | ||
| ENST00000699695.1:c.*106C>A | ENSP00000514526.1:n.*106C>A | |
| ENST00000699696.1:n.1037C>A | ||
| ENST00000699697.1:c.734C>A | ENSP00000514527.1:p.Ser245Tyr | |
| ENST00000699698.1:n.655C>A | ||
| ENST00000699699.1:n.1058C>A | ||
| ENST00000699700.1:n.1181C>A | ||
| ENST00000699701.1:c.*114C>A | ENSP00000514528.1:n.*114C>A | |
| ENST00000267415.12:c.734C>A MANE Select | ENSP00000267415.7:p.Ser245Tyr | |
| ENST00000557921.2:c.626C>A | ENSP00000453157.2:p.Ser209Tyr | |
| ENST00000646753.1:c.629C>A | ENSP00000494065.1:p.Ser210Tyr | |
| ENST00000267415.11:c.734C>A | ENSP00000267415.7:p.Ser245Tyr | |
| ENST00000399423.8:c.734C>A | ENSP00000382350.4:p.Ser245Tyr | |
| ENST00000558476.5:c.296C>A | ENSP00000452724.1:p.Ser99Tyr | |
| ENST00000558566.1:c.*106C>A | ENSP00000453025.1:n.*106C>A | |
| ENST00000559019.1:c.*106C>A | ENSP00000453675.1:n.*106C>A | |
| ENST00000559549.1:n.460C>A | ||
| ENST00000559969.5:c.690C>A | ||
| ENST00000626689.2:c.*106C>A | ENSP00000486681.1:n.*106C>A | |
| NM_001099274.1:c.734C>A | NP_001092744.1:p.Ser245Tyr | |
| NM_012461.2:c.734C>A | NP_036593.2:p.Ser245Tyr | |
| XM_005267528.2:c.734C>A | XP_005267585.1:p.Ser245Tyr | |
| XM_005267529.2:c.629C>A | XP_005267586.1:p.Ser210Tyr | |
| NM_001099274.2:c.734C>A | NP_001092744.1:p.Ser245Tyr | |
| NM_001363668.1:c.629C>A | NP_001350597.1:p.Ser210Tyr | |
| NM_012461.3:c.734C>A | NP_036593.2:p.Ser245Tyr | |
| XM_011536642.2:c.*114C>A | XP_011534944.1:n.*114C>A | |
| XM_017021216.2:c.92C>A | XP_016876705.1:p.Ser31Tyr | |
| XM_017021217.1:c.92C>A | XP_016876706.1:p.Ser31Tyr | |
| NM_001099274.3:c.734C>A MANE Select | NP_001092744.1:p.Ser245Tyr | |
| NM_001363668.2:c.629C>A | NP_001350597.1:p.Ser210Tyr |