Linked Data
ClinVar Variation Id:
2958070
ClinVar RCV Id:
RCV003814318
gnomAD v4:
14-24240532-T-C
MyVariant Identifiers:
chr14:g.24709738T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24240532T>C , CM000676.2:g.24240532T>C | GRCh38 |
| NC_000014.8:g.24709738T>C , CM000676.1:g.24709738T>C | GRCh37 |
| NC_000014.7:g.23779578T>C | NCBI36 |
| NG_016650.1:g.7143A>G | |
| NG_054634.1:g.13116T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000557915.2:n.1251A>G | ||
| ENST00000557921.3:c.840A>G | ENSP00000453157.3:p.Leu280= | |
| ENST00000699682.1:n.1338A>G | ||
| ENST00000699683.1:n.1388A>G | ||
| ENST00000699684.1:c.*541A>G | ENSP00000514523.1:n.*541A>G | |
| ENST00000699685.1:n.1152A>G | ||
| ENST00000699686.1:c.741A>G | ENSP00000514524.1:p.Leu247= | |
| ENST00000699687.1:c.843A>G | ENSP00000514525.1:p.Leu281= | |
| ENST00000699688.1:n.1148A>G | ||
| ENST00000699689.1:n.1504A>G | ||
| ENST00000699690.1:n.1701A>G | ||
| ENST00000699691.1:n.1845A>G | ||
| ENST00000699693.1:n.1365A>G | ||
| ENST00000699694.1:n.1607A>G | ||
| ENST00000699695.1:c.*320A>G | ENSP00000514526.1:n.*320A>G | |
| ENST00000699696.1:n.1251A>G | ||
| ENST00000699697.1:c.948A>G | ENSP00000514527.1:p.Leu316= | |
| ENST00000699698.1:n.869A>G | ||
| ENST00000699699.1:n.1272A>G | ||
| ENST00000699700.1:n.1395A>G | ||
| ENST00000699701.1:c.*328A>G | ENSP00000514528.1:n.*328A>G | |
| ENST00000267415.12:c.948A>G MANE Select | ENSP00000267415.7:p.Leu316= | |
| ENST00000557921.2:c.840A>G | ENSP00000453157.2:p.Leu280= | |
| ENST00000646753.1:c.843A>G | ENSP00000494065.1:p.Leu281= | |
| ENST00000267415.11:c.948A>G | ENSP00000267415.7:p.Leu316= | |
| ENST00000399423.8:c.948A>G | ENSP00000382350.4:p.Leu316= | |
| ENST00000557915.1:n.67A>G | ||
| ENST00000558566.1:c.*320A>G | ENSP00000453025.1:n.*320A>G | |
| ENST00000559019.1:c.*320A>G | ENSP00000453675.1:n.*320A>G | |
| ENST00000559969.5:c.758-52A>G | ||
| ENST00000626689.2:c.*320A>G | ENSP00000486681.1:n.*320A>G | |
| NM_001099274.1:c.948A>G | NP_001092744.1:p.Leu316= | |
| NM_012461.2:c.948A>G | NP_036593.2:p.Leu316= | |
| XM_005267528.2:c.948A>G | XP_005267585.1:p.Leu316= | |
| XM_005267529.2:c.843A>G | XP_005267586.1:p.Leu281= | |
| NM_001099274.2:c.948A>G | NP_001092744.1:p.Leu316= | |
| NM_001363668.1:c.843A>G | NP_001350597.1:p.Leu281= | |
| NM_012461.3:c.948A>G | NP_036593.2:p.Leu316= | |
| XM_011536642.2:c.*328A>G | XP_011534944.1:n.*328A>G | |
| XM_017021216.2:c.306A>G | XP_016876705.1:p.Leu102= | |
| XM_017021217.1:c.306A>G | XP_016876706.1:p.Leu102= | |
| NM_001099274.3:c.948A>G MANE Select | NP_001092744.1:p.Leu316= | |
| NM_001363668.2:c.843A>G | NP_001350597.1:p.Leu281= |