Linked Data
dbSNP Id:
rs775263081
ExAC:
14:24709662 C / T
gnomAD v2:
14-24709662-C-T
gnomAD v3:
14-24240456-C-T
gnomAD v4:
14-24240456-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24240456C>T , CM000676.2:g.24240456C>T | GRCh38 |
| NC_000014.8:g.24709662C>T , CM000676.1:g.24709662C>T | GRCh37 |
| NC_000014.7:g.23779502C>T | NCBI36 |
| NG_016650.1:g.7219G>A | |
| NG_054634.1:g.13040C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557915.2:n.1327G>A | ||
| ENST00000557921.3:c.916G>A | ENSP00000453157.3:p.Glu306Lys | |
| ENST00000699682.1:n.1414G>A | ||
| ENST00000699683.1:n.1464G>A | ||
| ENST00000699684.1:c.*617G>A | ENSP00000514523.1:n.*617G>A | |
| ENST00000699685.1:n.1228G>A | ||
| ENST00000699686.1:c.817G>A | ENSP00000514524.1:p.Glu273Lys | |
| ENST00000699687.1:c.919G>A | ENSP00000514525.1:p.Glu307Lys | |
| ENST00000699688.1:n.1224G>A | ||
| ENST00000699689.1:n.1580G>A | ||
| ENST00000699690.1:n.1777G>A | ||
| ENST00000699691.1:n.1921G>A | ||
| ENST00000699693.1:n.1441G>A | ||
| ENST00000699694.1:n.1683G>A | ||
| ENST00000699695.1:c.*396G>A | ENSP00000514526.1:n.*396G>A | |
| ENST00000699696.1:n.1327G>A | ||
| ENST00000699697.1:c.1024G>A | ENSP00000514527.1:p.Glu342Lys | |
| ENST00000699698.1:n.945G>A | ||
| ENST00000699699.1:n.1348G>A | ||
| ENST00000699700.1:n.1471G>A | ||
| ENST00000699701.1:c.*404G>A | ENSP00000514528.1:n.*404G>A | |
| ENST00000267415.12:c.1024G>A MANE Select | ENSP00000267415.7:p.Glu342Lys | |
| ENST00000646753.1:c.919G>A | ENSP00000494065.1:p.Glu307Lys | |
| ENST00000267415.11:c.1024G>A | ENSP00000267415.7:p.Glu342Lys | |
| ENST00000399423.8:c.1024G>A | ENSP00000382350.4:p.Glu342Lys | |
| ENST00000557915.1:n.143G>A | ||
| ENST00000558566.1:c.*396G>A | ENSP00000453025.1:n.*396G>A | |
| ENST00000559969.5:c.782G>A | ||
| ENST00000560019.5:c.19G>A | ENSP00000453113.1:p.Glu7Lys | |
| ENST00000626689.2:c.*396G>A | ENSP00000486681.1:n.*396G>A | |
| NM_001099274.1:c.1024G>A | NP_001092744.1:p.Glu342Lys | |
| NM_012461.2:c.1024G>A | NP_036593.2:p.Glu342Lys | |
| XM_005267528.2:c.1024G>A | XP_005267585.1:p.Glu342Lys | |
| XM_005267529.2:c.919G>A | XP_005267586.1:p.Glu307Lys | |
| NM_001099274.2:c.1024G>A | NP_001092744.1:p.Glu342Lys | |
| NM_001363668.1:c.919G>A | NP_001350597.1:p.Glu307Lys | |
| NM_012461.3:c.1024G>A | NP_036593.2:p.Glu342Lys | |
| XM_011536642.2:c.*404G>A | XP_011534944.1:n.*404G>A | |
| XM_017021216.2:c.382G>A | XP_016876705.1:p.Glu128Lys | |
| XM_017021217.1:c.382G>A | XP_016876706.1:p.Glu128Lys | |
| NM_001099274.3:c.1024G>A MANE Select | NP_001092744.1:p.Glu342Lys | |
| NM_001363668.2:c.919G>A | NP_001350597.1:p.Glu307Lys |