Linked Data
ClinVar Variation Id:
1692551
ClinVar RCV Id:
RCV002255936
dbSNP Id:
rs2138998003
gnomAD v4:
14-24240616-A-G
MyVariant Identifiers:
chr14:g.24709822A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24240616A>G , CM000676.2:g.24240616A>G | GRCh38 |
| NC_000014.8:g.24709822A>G , CM000676.1:g.24709822A>G | GRCh37 |
| NC_000014.7:g.23779662A>G | NCBI36 |
| NG_016650.1:g.7059T>C | |
| NG_054634.1:g.13200A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000557915.2:n.1167T>C | ||
| ENST00000557921.3:c.756T>C | ENSP00000453157.3:p.Phe252= | |
| ENST00000699682.1:n.1254T>C | ||
| ENST00000699683.1:n.1304T>C | ||
| ENST00000699684.1:c.*457T>C | ENSP00000514523.1:n.*457T>C | |
| ENST00000699685.1:n.1068T>C | ||
| ENST00000699686.1:c.657T>C | ENSP00000514524.1:p.Phe219= | |
| ENST00000699687.1:c.759T>C | ENSP00000514525.1:p.Phe253= | |
| ENST00000699688.1:n.1064T>C | ||
| ENST00000699689.1:n.1420T>C | ||
| ENST00000699690.1:n.1617T>C | ||
| ENST00000699691.1:n.1761T>C | ||
| ENST00000699693.1:n.1281T>C | ||
| ENST00000699694.1:n.1523T>C | ||
| ENST00000699695.1:c.*236T>C | ENSP00000514526.1:n.*236T>C | |
| ENST00000699696.1:n.1167T>C | ||
| ENST00000699697.1:c.864T>C | ENSP00000514527.1:p.Phe288= | |
| ENST00000699698.1:n.785T>C | ||
| ENST00000699699.1:n.1188T>C | ||
| ENST00000699700.1:n.1311T>C | ||
| ENST00000699701.1:c.*244T>C | ENSP00000514528.1:n.*244T>C | |
| ENST00000267415.12:c.864T>C MANE Select | ENSP00000267415.7:p.Phe288= | |
| ENST00000557921.2:c.756T>C | ENSP00000453157.2:p.Phe252= | |
| ENST00000646753.1:c.759T>C | ENSP00000494065.1:p.Phe253= | |
| ENST00000267415.11:c.864T>C | ENSP00000267415.7:p.Phe288= | |
| ENST00000399423.8:c.864T>C | ENSP00000382350.4:p.Phe288= | |
| ENST00000558476.5:c.426T>C | ENSP00000452724.1:p.Phe142= | |
| ENST00000558566.1:c.*236T>C | ENSP00000453025.1:n.*236T>C | |
| ENST00000559019.1:c.*236T>C | ENSP00000453675.1:n.*236T>C | |
| ENST00000559549.1:n.590T>C | ||
| ENST00000559969.5:c.757+63T>C | ||
| ENST00000626689.2:c.*236T>C | ENSP00000486681.1:n.*236T>C | |
| NM_001099274.1:c.864T>C | NP_001092744.1:p.Phe288= | |
| NM_012461.2:c.864T>C | NP_036593.2:p.Phe288= | |
| XM_005267528.2:c.864T>C | XP_005267585.1:p.Phe288= | |
| XM_005267529.2:c.759T>C | XP_005267586.1:p.Phe253= | |
| NM_001099274.2:c.864T>C | NP_001092744.1:p.Phe288= | |
| NM_001363668.1:c.759T>C | NP_001350597.1:p.Phe253= | |
| NM_012461.3:c.864T>C | NP_036593.2:p.Phe288= | |
| XM_011536642.2:c.*244T>C | XP_011534944.1:n.*244T>C | |
| XM_017021216.2:c.222T>C | XP_016876705.1:p.Phe74= | |
| XM_017021217.1:c.222T>C | XP_016876706.1:p.Phe74= | |
| NM_001099274.3:c.864T>C MANE Select | NP_001092744.1:p.Phe288= | |
| NM_001363668.2:c.759T>C | NP_001350597.1:p.Phe253= |