Linked Data
ClinVar Variation Id:
1385538
dbSNP Id:
rs369926102
gnomAD v2:
14-24709884-C-G
gnomAD v3:
14-24240678-C-G
gnomAD v4:
14-24240678-C-G
MyVariant Identifiers:
chr14:g.24709884C>G (hg19)
chr14:g.24709884_24709887delinsGTCT (hg19)
chr14:g.24240678C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24240678C>G , CM000676.2:g.24240678C>G | GRCh38 |
| NC_000014.8:g.24709884C>G , CM000676.1:g.24709884C>G | GRCh37 |
| NC_000014.7:g.23779724C>G | NCBI36 |
| NG_016650.1:g.6997G>C | |
| NG_054634.1:g.13262C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557915.2:n.1105G>C | ||
| ENST00000557921.3:c.694G>C | ENSP00000453157.3:p.Val232Leu | |
| ENST00000699682.1:n.1192G>C | ||
| ENST00000699683.1:n.1242G>C | ||
| ENST00000699684.1:c.*395G>C | ENSP00000514523.1:n.*395G>C | |
| ENST00000699685.1:n.1006G>C | ||
| ENST00000699686.1:c.595G>C | ENSP00000514524.1:p.Val199Leu | |
| ENST00000699687.1:c.697G>C | ENSP00000514525.1:p.Val233Leu | |
| ENST00000699688.1:n.1002G>C | ||
| ENST00000699689.1:n.1358G>C | ||
| ENST00000699690.1:n.1555G>C | ||
| ENST00000699691.1:n.1699G>C | ||
| ENST00000699693.1:n.1219G>C | ||
| ENST00000699694.1:n.1461G>C | ||
| ENST00000699695.1:c.*174G>C | ENSP00000514526.1:n.*174G>C | |
| ENST00000699696.1:n.1105G>C | ||
| ENST00000699697.1:c.802G>C | ENSP00000514527.1:p.Val268Leu | |
| ENST00000699698.1:n.723G>C | ||
| ENST00000699699.1:n.1126G>C | ||
| ENST00000699700.1:n.1249G>C | ||
| ENST00000699701.1:c.*182G>C | ENSP00000514528.1:n.*182G>C | |
| ENST00000267415.12:c.802G>C MANE Select | ENSP00000267415.7:p.Val268Leu | |
| ENST00000557921.2:c.694G>C | ENSP00000453157.2:p.Val232Leu | |
| ENST00000646753.1:c.697G>C | ENSP00000494065.1:p.Val233Leu | |
| ENST00000267415.11:c.802G>C | ENSP00000267415.7:p.Val268Leu | |
| ENST00000399423.8:c.802G>C | ENSP00000382350.4:p.Val268Leu | |
| ENST00000558476.5:c.364G>C | ENSP00000452724.1:p.Val122Leu | |
| ENST00000558566.1:c.*174G>C | ENSP00000453025.1:n.*174G>C | |
| ENST00000559019.1:c.*174G>C | ENSP00000453675.1:n.*174G>C | |
| ENST00000559549.1:n.528G>C | ||
| ENST00000559969.5:c.757+1G>C | ||
| ENST00000626689.2:c.*174G>C | ENSP00000486681.1:n.*174G>C | |
| NM_001099274.1:c.802G>C | NP_001092744.1:p.Val268Leu | |
| NM_012461.2:c.802G>C | NP_036593.2:p.Val268Leu | |
| XM_005267528.2:c.802G>C | XP_005267585.1:p.Val268Leu | |
| XM_005267529.2:c.697G>C | XP_005267586.1:p.Val233Leu | |
| NM_001099274.2:c.802G>C | NP_001092744.1:p.Val268Leu | |
| NM_001363668.1:c.697G>C | NP_001350597.1:p.Val233Leu | |
| NM_012461.3:c.802G>C | NP_036593.2:p.Val268Leu | |
| XM_011536642.2:c.*182G>C | XP_011534944.1:n.*182G>C | |
| XM_017021216.2:c.160G>C | XP_016876705.1:p.Val54Leu | |
| XM_017021217.1:c.160G>C | XP_016876706.1:p.Val54Leu | |
| NM_001099274.3:c.802G>C MANE Select | NP_001092744.1:p.Val268Leu | |
| NM_001363668.2:c.697G>C | NP_001350597.1:p.Val233Leu |