Linked Data
ClinVar Variation Id:
413987
dbSNP Id:
rs192423622
ExAC:
14:24709325 A / G
gnomAD v2:
14-24709325-A-G
gnomAD v3:
14-24240119-A-G
gnomAD v4:
14-24240119-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24240119A>G , CM000676.2:g.24240119A>G | GRCh38 |
| NC_000014.8:g.24709325A>G , CM000676.1:g.24709325A>G | GRCh37 |
| NC_000014.7:g.23779165A>G | NCBI36 |
| NG_016650.1:g.7556T>C | |
| NG_054634.1:g.12703A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557915.2:n.1557T>C | ||
| ENST00000557921.3:c.*296T>C | ENSP00000453157.3:n.*296T>C | |
| ENST00000699682.1:n.1751T>C | ||
| ENST00000699683.1:n.1801T>C | ||
| ENST00000699684.1:c.*954T>C | ENSP00000514523.1:n.*954T>C | |
| ENST00000699685.1:n.1565T>C | ||
| ENST00000699686.1:c.*296T>C | ENSP00000514524.1:n.*296T>C | |
| ENST00000699687.1:c.*296T>C | ENSP00000514525.1:n.*296T>C | |
| ENST00000699688.1:n.1561T>C | ||
| ENST00000699689.1:n.1917T>C | ||
| ENST00000699690.1:n.2114T>C | ||
| ENST00000699691.1:n.2258T>C | ||
| ENST00000699692.1:n.133T>C | ||
| ENST00000699693.1:n.1583T>C | ||
| ENST00000699694.1:n.2020T>C | ||
| ENST00000699695.1:c.*538T>C | ENSP00000514526.1:n.*538T>C | |
| ENST00000699696.1:n.1557T>C | ||
| ENST00000699697.1:c.*136T>C | ENSP00000514527.1:n.*136T>C | |
| ENST00000699698.1:n.1194T>C | ||
| ENST00000699699.1:n.1685T>C | ||
| ENST00000699700.1:n.1808T>C | ||
| ENST00000699701.1:c.*741T>C | ENSP00000514528.1:n.*741T>C | |
| ENST00000267415.12:c.1166T>C MANE Select | ENSP00000267415.7:p.Ile389Thr | |
| ENST00000646753.1:c.1061T>C | ENSP00000494065.1:p.Ile354Thr | |
| ENST00000267415.11:c.1166T>C | ENSP00000267415.7:p.Ile389Thr | |
| ENST00000399423.8:c.*296T>C | ENSP00000382350.4:n.*296T>C | |
| ENST00000557915.1:n.373T>C | ||
| ENST00000558566.1:c.*733T>C | ENSP00000453025.1:n.*733T>C | |
| ENST00000558703.1:n.124T>C | ||
| ENST00000559969.5:c.1119T>C | ||
| ENST00000560019.5:c.161T>C | ENSP00000453113.1:p.Ile54Thr | |
| ENST00000626689.2:c.*538T>C | ENSP00000486681.1:n.*538T>C | |
| NM_001099274.1:c.1166T>C | NP_001092744.1:p.Ile389Thr | |
| NM_012461.2:c.*296T>C | NP_036593.2:n.*296T>C | |
| XM_005267528.2:c.1166T>C | XP_005267585.1:p.Ile389Thr | |
| XM_005267529.2:c.1061T>C | XP_005267586.1:p.Ile354Thr | |
| NM_001099274.2:c.1166T>C | NP_001092744.1:p.Ile389Thr | |
| NM_001363668.1:c.1061T>C | NP_001350597.1:p.Ile354Thr | |
| NM_012461.3:c.*296T>C | NP_036593.2:n.*296T>C | |
| XM_011536642.2:c.*741T>C | XP_011534944.1:n.*741T>C | |
| XM_017021216.2:c.524T>C | XP_016876705.1:p.Ile175Thr | |
| XM_017021217.1:c.524T>C | XP_016876706.1:p.Ile175Thr | |
| NM_001099274.3:c.1166T>C MANE Select | NP_001092744.1:p.Ile389Thr | |
| NM_001363668.2:c.1061T>C | NP_001350597.1:p.Ile354Thr |