Linked Data
dbSNP Id:
rs1040503982
gnomAD v2:
14-24709611-T-A
gnomAD v3:
14-24240405-T-A
gnomAD v4:
14-24240405-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24240405T>A , CM000676.2:g.24240405T>A | GRCh38 |
| NC_000014.8:g.24709611T>A , CM000676.1:g.24709611T>A | GRCh37 |
| NC_000014.7:g.23779451T>A | NCBI36 |
| NG_016650.1:g.7270A>T | |
| NG_054634.1:g.12989T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557915.2:n.1378A>T | ||
| ENST00000557921.3:c.*10A>T | ENSP00000453157.3:n.*10A>T | |
| ENST00000699682.1:n.1465A>T | ||
| ENST00000699683.1:n.1515A>T | ||
| ENST00000699684.1:c.*668A>T | ENSP00000514523.1:n.*668A>T | |
| ENST00000699685.1:n.1279A>T | ||
| ENST00000699686.1:c.*10A>T | ENSP00000514524.1:n.*10A>T | |
| ENST00000699687.1:c.*10A>T | ENSP00000514525.1:n.*10A>T | |
| ENST00000699688.1:n.1275A>T | ||
| ENST00000699689.1:n.1631A>T | ||
| ENST00000699690.1:n.1828A>T | ||
| ENST00000699691.1:n.1972A>T | ||
| ENST00000699693.1:n.1478+14A>T | ||
| ENST00000699694.1:n.1734A>T | ||
| ENST00000699695.1:c.*433+14A>T | ENSP00000514526.1:n.*433+14A>T | |
| ENST00000699696.1:n.1378A>T | ||
| ENST00000699697.1:c.1061+14A>T | ENSP00000514527.1:n.1061+14A>T | |
| ENST00000699698.1:n.982+14A>T | ||
| ENST00000699699.1:n.1399A>T | ||
| ENST00000699700.1:n.1522A>T | ||
| ENST00000699701.1:c.*455A>T | ENSP00000514528.1:n.*455A>T | |
| ENST00000267415.12:c.1061+14A>T MANE Select | ENSP00000267415.7:n.1061+14A>T | |
| ENST00000646753.1:c.956+14A>T | ENSP00000494065.1:n.956+14A>T | |
| ENST00000267415.11:c.1061+14A>T | ENSP00000267415.7:n.1061+14A>T | |
| ENST00000399423.8:c.*10A>T | ENSP00000382350.4:n.*10A>T | |
| ENST00000557915.1:n.194A>T | ||
| ENST00000558566.1:c.*447A>T | ENSP00000453025.1:n.*447A>T | |
| ENST00000559969.5:c.833A>T | ||
| ENST00000560019.5:c.56+14A>T | ENSP00000453113.1:n.56+14A>T | |
| ENST00000626689.2:c.*433+14A>T | ENSP00000486681.1:n.*433+14A>T | |
| NM_001099274.1:c.1061+14A>T | NP_001092744.1:n.1061+14A>T | |
| NM_012461.2:c.*10A>T | NP_036593.2:n.*10A>T | |
| XM_005267528.2:c.1061+14A>T | XP_005267585.1:n.1061+14A>T | |
| XM_005267529.2:c.956+14A>T | XP_005267586.1:n.956+14A>T | |
| NM_001099274.2:c.1061+14A>T | NP_001092744.1:n.1061+14A>T | |
| NM_001363668.1:c.956+14A>T | NP_001350597.1:n.956+14A>T | |
| NM_012461.3:c.*10A>T | NP_036593.2:n.*10A>T | |
| XM_011536642.2:c.*455A>T | XP_011534944.1:n.*455A>T | |
| XM_017021216.2:c.419+14A>T | XP_016876705.1:n.419+14A>T | |
| XM_017021217.1:c.419+14A>T | XP_016876706.1:n.419+14A>T | |
| NM_001099274.3:c.1061+14A>T MANE Select | NP_001092744.1:n.1061+14A>T | |
| NM_001363668.2:c.956+14A>T | NP_001350597.1:n.956+14A>T |