Linked Data
ClinVar Variation Id:
697299
dbSNP Id:
rs200990844
ExAC:
14:24709683 G / A
gnomAD v2:
14-24709683-G-A
gnomAD v3:
14-24240477-G-A
gnomAD v4:
14-24240477-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24240477G>A , CM000676.2:g.24240477G>A | GRCh38 |
| NC_000014.8:g.24709683G>A , CM000676.1:g.24709683G>A | GRCh37 |
| NC_000014.7:g.23779523G>A | NCBI36 |
| NG_016650.1:g.7198C>T | |
| NG_054634.1:g.13061G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557915.2:n.1306C>T | ||
| ENST00000557921.3:c.895C>T | ENSP00000453157.3:p.Leu299= | |
| ENST00000699682.1:n.1393C>T | ||
| ENST00000699683.1:n.1443C>T | ||
| ENST00000699684.1:c.*596C>T | ENSP00000514523.1:n.*596C>T | |
| ENST00000699685.1:n.1207C>T | ||
| ENST00000699686.1:c.796C>T | ENSP00000514524.1:p.Leu266= | |
| ENST00000699687.1:c.898C>T | ENSP00000514525.1:p.Leu300= | |
| ENST00000699688.1:n.1203C>T | ||
| ENST00000699689.1:n.1559C>T | ||
| ENST00000699690.1:n.1756C>T | ||
| ENST00000699691.1:n.1900C>T | ||
| ENST00000699693.1:n.1420C>T | ||
| ENST00000699694.1:n.1662C>T | ||
| ENST00000699695.1:c.*375C>T | ENSP00000514526.1:n.*375C>T | |
| ENST00000699696.1:n.1306C>T | ||
| ENST00000699697.1:c.1003C>T | ENSP00000514527.1:p.Leu335= | |
| ENST00000699698.1:n.924C>T | ||
| ENST00000699699.1:n.1327C>T | ||
| ENST00000699700.1:n.1450C>T | ||
| ENST00000699701.1:c.*383C>T | ENSP00000514528.1:n.*383C>T | |
| ENST00000267415.12:c.1003C>T MANE Select | ENSP00000267415.7:p.Leu335= | |
| ENST00000646753.1:c.898C>T | ENSP00000494065.1:p.Leu300= | |
| ENST00000267415.11:c.1003C>T | ENSP00000267415.7:p.Leu335= | |
| ENST00000399423.8:c.1003C>T | ENSP00000382350.4:p.Leu335= | |
| ENST00000557915.1:n.122C>T | ||
| ENST00000558566.1:c.*375C>T | ENSP00000453025.1:n.*375C>T | |
| ENST00000559969.5:c.761C>T | ||
| ENST00000626689.2:c.*375C>T | ENSP00000486681.1:n.*375C>T | |
| NM_001099274.1:c.1003C>T | NP_001092744.1:p.Leu335= | |
| NM_012461.2:c.1003C>T | NP_036593.2:p.Leu335= | |
| XM_005267528.2:c.1003C>T | XP_005267585.1:p.Leu335= | |
| XM_005267529.2:c.898C>T | XP_005267586.1:p.Leu300= | |
| NM_001099274.2:c.1003C>T | NP_001092744.1:p.Leu335= | |
| NM_001363668.1:c.898C>T | NP_001350597.1:p.Leu300= | |
| NM_012461.3:c.1003C>T | NP_036593.2:p.Leu335= | |
| XM_011536642.2:c.*383C>T | XP_011534944.1:n.*383C>T | |
| XM_017021216.2:c.361C>T | XP_016876705.1:p.Leu121= | |
| XM_017021217.1:c.361C>T | XP_016876706.1:p.Leu121= | |
| NM_001099274.3:c.1003C>T MANE Select | NP_001092744.1:p.Leu335= | |
| NM_001363668.2:c.898C>T | NP_001350597.1:p.Leu300= |