Linked Data
ClinVar Variation Id:
37573
dbSNP Id:
rs397507226
gnomAD v3:
17-43090948-G-A
gnomAD v4:
17-43090948-G-A
PubMed:
PMID:26287763
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43090948G>A , CM000679.2:g.43090948G>A | GRCh38 |
| NC_000017.10:g.41242965G>A , CM000679.1:g.41242965G>A | GRCh37 |
| NC_000017.9:g.38496491G>A | NCBI36 |
| NG_005905.2:g.127036C>T , LRG_292:g.127036C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4181C>T | ENSP00000417241.2:p.Thr1394Ile | |
| ENST00000470026.6:c.4181C>T | ENSP00000419274.2:p.Thr1394Ile | |
| ENST00000473961.6:c.4055C>T | ENSP00000420201.2:p.Thr1352Ile | |
| ENST00000476777.6:c.4178C>T | ENSP00000417554.2:p.Thr1393Ile | |
| ENST00000477152.6:c.4103C>T | ENSP00000419988.2:p.Thr1368Ile | |
| ENST00000478531.6:c.869C>T | ENSP00000420412.2:p.Thr290Ile | |
| ENST00000489037.2:c.4103C>T | ENSP00000420781.2:p.Thr1368Ile | |
| ENST00000493919.6:c.731C>T | ENSP00000418819.2:p.Thr244Ile | |
| ENST00000494123.6:c.4181C>T | ENSP00000419103.2:p.Thr1394Ile | |
| ENST00000497488.2:c.3293C>T | ENSP00000418986.2:p.Thr1098Ile | |
| ENST00000618469.2:c.4181C>T | ENSP00000478114.2:p.Thr1394Ile | |
| ENST00000634433.2:c.4058C>T | ENSP00000489431.2:p.Thr1353Ile | |
| ENST00000644379.2:c.4181C>T | ENSP00000496570.2:p.Thr1394Ile | |
| ENST00000644555.2:c.731C>T | ENSP00000494614.2:p.Thr244Ile | |
| ENST00000652672.2:c.4040C>T | ENSP00000498906.2:p.Thr1347Ile | |
| ENST00000484087.6:c.749C>T | ENSP00000419481.2:p.Thr250Ile | |
| ENST00000700182.1:c.791C>T | ENSP00000514849.1:p.Thr264Ile | |
| ENST00000357654.9:c.4181C>T MANE Select | ENSP00000350283.3:p.Thr1394Ile | |
| ENST00000471181.7:c.4181C>T | ENSP00000418960.2:p.Thr1394Ile | |
| ENST00000644379.1:c.502C>T | ||
| ENST00000352993.7:c.755C>T | ENSP00000312236.5:p.Thr252Ile | |
| ENST00000357654.7:c.4181C>T | ENSP00000350283.3:p.Thr1394Ile | |
| ENST00000461221.5:c.*3964C>T | ENSP00000418548.1:n.*3964C>T | |
| ENST00000461574.1:c.475C>T | ||
| ENST00000468300.5:c.872C>T | ENSP00000417148.1:p.Thr291Ile | |
| ENST00000471181.6:c.4181C>T | ENSP00000418960.2:p.Thr1394Ile | |
| ENST00000478531.5:c.869C>T | ENSP00000420412.1:p.Thr290Ile | |
| ENST00000484087.5:c.494C>T | ENSP00000419481.1:p.Thr165Ile | |
| ENST00000487825.5:c.497C>T | ENSP00000418212.1:p.Thr166Ile | |
| ENST00000491747.6:c.872C>T | ENSP00000420705.2:p.Thr291Ile | |
| ENST00000493795.5:c.4040C>T | ENSP00000418775.1:p.Thr1347Ile | |
| ENST00000493919.5:c.731C>T | ENSP00000418819.1:p.Thr244Ile | |
| ENST00000586385.5:c.5-26997C>T | ENSP00000465818.1:n.5-26997C>T | |
| ENST00000591534.5:c.-43-16427C>T | ENSP00000467329.1:n.-43-16427C>T | |
| ENST00000591849.5:c.-99+34323C>T | ENSP00000465347.1:n.-99+34323C>T | |
| NM_007294.3:c.4181C>T , LRG_292t1:c.4181C>T | NP_009225.1:p.Thr1394Ile | |
| NM_007297.3:c.4040C>T | NP_009228.2:p.Thr1347Ile | |
| NM_007298.3:c.872C>T | NP_009229.2:p.Thr291Ile | |
| NM_007299.3:c.872C>T | NP_009230.2:p.Thr291Ile | |
| NM_007300.3:c.4181C>T | NP_009231.2:p.Thr1394Ile | |
| NR_027676.1:n.4317C>T | ||
| NM_007294.4:c.4181C>T MANE Select | NP_009225.1:p.Thr1394Ile | |
| NM_007297.4:c.4040C>T | NP_009228.2:p.Thr1347Ile | |
| NM_007299.4:c.872C>T | NP_009230.2:p.Thr291Ile | |
| NM_007300.4:c.4181C>T | NP_009231.2:p.Thr1394Ile | |
| NR_027676.2:n.4358C>T |