Linked Data
ClinVar Variation Id:
1593461
ClinVar RCV Id:
RCV002112902
dbSNP Id:
rs370555134
ExAC:
14:24710002 G / A
gnomAD v2:
14-24710002-G-A
gnomAD v3:
14-24240796-G-A
gnomAD v4:
14-24240796-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24240796G>A , CM000676.2:g.24240796G>A | GRCh38 |
| NC_000014.8:g.24710002G>A , CM000676.1:g.24710002G>A | GRCh37 |
| NC_000014.7:g.23779842G>A | NCBI36 |
| NG_016650.1:g.6879C>T | |
| NG_054634.1:g.13380G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557915.2:n.987C>T | ||
| ENST00000557921.3:c.576C>T | ENSP00000453157.3:p.His192= | |
| ENST00000699682.1:n.1074C>T | ||
| ENST00000699683.1:n.1124C>T | ||
| ENST00000699684.1:c.*277C>T | ENSP00000514523.1:n.*277C>T | |
| ENST00000699685.1:n.888C>T | ||
| ENST00000699686.1:c.477C>T | ENSP00000514524.1:p.His159= | |
| ENST00000699687.1:c.579C>T | ENSP00000514525.1:p.His193= | |
| ENST00000699688.1:n.884C>T | ||
| ENST00000699689.1:n.1240C>T | ||
| ENST00000699690.1:n.1437C>T | ||
| ENST00000699691.1:n.1581C>T | ||
| ENST00000699693.1:n.1101C>T | ||
| ENST00000699694.1:n.1343C>T | ||
| ENST00000699695.1:c.*56C>T | ENSP00000514526.1:n.*56C>T | |
| ENST00000699696.1:n.987C>T | ||
| ENST00000699697.1:c.684C>T | ENSP00000514527.1:p.His228= | |
| ENST00000699698.1:n.605C>T | ||
| ENST00000699699.1:n.1008C>T | ||
| ENST00000699700.1:n.1131C>T | ||
| ENST00000699701.1:c.*64C>T | ENSP00000514528.1:n.*64C>T | |
| ENST00000267415.12:c.684C>T MANE Select | ENSP00000267415.7:p.His228= | |
| ENST00000557921.2:c.576C>T | ENSP00000453157.2:p.His192= | |
| ENST00000646753.1:c.579C>T | ENSP00000494065.1:p.His193= | |
| ENST00000267415.11:c.684C>T | ENSP00000267415.7:p.His228= | |
| ENST00000399423.8:c.684C>T | ENSP00000382350.4:p.His228= | |
| ENST00000558476.5:c.246C>T | ENSP00000452724.1:p.His82= | |
| ENST00000558566.1:c.*56C>T | ENSP00000453025.1:n.*56C>T | |
| ENST00000559019.1:c.*56C>T | ENSP00000453675.1:n.*56C>T | |
| ENST00000559549.1:n.410C>T | ||
| ENST00000559969.5:c.640C>T | ||
| ENST00000626689.2:c.*56C>T | ENSP00000486681.1:n.*56C>T | |
| NM_001099274.1:c.684C>T | NP_001092744.1:p.His228= | |
| NM_012461.2:c.684C>T | NP_036593.2:p.His228= | |
| XM_005267528.2:c.684C>T | XP_005267585.1:p.His228= | |
| XM_005267529.2:c.579C>T | XP_005267586.1:p.His193= | |
| XM_011536642.1:c.*64C>T | XP_011534944.1:n.*64C>T | |
| NM_001099274.2:c.684C>T | NP_001092744.1:p.His228= | |
| NM_001363668.1:c.579C>T | NP_001350597.1:p.His193= | |
| NM_012461.3:c.684C>T | NP_036593.2:p.His228= | |
| XM_011536642.2:c.*64C>T | XP_011534944.1:n.*64C>T | |
| XM_017021216.2:c.42C>T | XP_016876705.1:p.His14= | |
| XM_017021217.1:c.42C>T | XP_016876706.1:p.His14= | |
| NM_001099274.3:c.684C>T MANE Select | NP_001092744.1:p.His228= | |
| NM_001363668.2:c.579C>T | NP_001350597.1:p.His193= |