Linked Data
ClinVar Variation Id:
409334
dbSNP Id:
rs80357274
gnomAD v3:
17-43045704-G-T
gnomAD v4:
17-43045704-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43045704G>T , CM000679.2:g.43045704G>T | GRCh38 |
| NC_000017.10:g.41197721G>T , CM000679.1:g.41197721G>T | GRCh37 |
| NC_000017.9:g.38451247G>T | NCBI36 |
| NG_005905.2:g.172280C>A , LRG_292:g.172280C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5563C>A | ENSP00000417241.2:p.Pro1855Thr | |
| ENST00000470026.6:c.5566C>A | ENSP00000419274.2:p.Pro1856Thr | |
| ENST00000473961.6:c.5440C>A | ENSP00000420201.2:p.Pro1814Thr | |
| ENST00000476777.6:c.5560C>A | ENSP00000417554.2:p.Pro1854Thr | |
| ENST00000477152.6:c.5488C>A | ENSP00000419988.2:p.Pro1830Thr | |
| ENST00000478531.6:c.2254C>A | ENSP00000420412.2:p.Pro752Thr | |
| ENST00000489037.2:c.5488C>A | ENSP00000420781.2:p.Pro1830Thr | |
| ENST00000493919.6:c.2116C>A | ENSP00000418819.2:p.Pro706Thr | |
| ENST00000494123.6:c.5566C>A | ENSP00000419103.2:p.Pro1856Thr | |
| ENST00000497488.2:c.4678C>A | ENSP00000418986.2:p.Pro1560Thr | |
| ENST00000618469.2:c.5566C>A | ENSP00000478114.2:p.Pro1856Thr | |
| ENST00000634433.2:c.5443C>A | ENSP00000489431.2:p.Pro1815Thr | |
| ENST00000644379.2:c.5632C>A | ENSP00000496570.2:p.Pro1878Thr | |
| ENST00000644555.2:c.2116C>A | ENSP00000494614.2:p.Pro706Thr | |
| ENST00000652672.2:c.5425C>A | ENSP00000498906.2:p.Pro1809Thr | |
| ENST00000484087.6:c.2128C>A | ENSP00000419481.2:p.Pro710Thr | |
| ENST00000700081.1:n.1449C>A | ||
| ENST00000700082.1:n.930C>A | ||
| ENST00000357654.9:c.5566C>A MANE Select | ENSP00000350283.3:p.Pro1856Thr | |
| ENST00000471181.7:c.5629C>A | ENSP00000418960.2:p.Pro1877Thr | |
| ENST00000644379.1:c.1953C>A | ||
| ENST00000352993.7:c.2140C>A | ENSP00000312236.5:p.Pro714Thr | |
| ENST00000357654.7:c.5566C>A | ENSP00000350283.3:p.Pro1856Thr | |
| ENST00000461221.5:c.*5349C>A | ENSP00000418548.1:n.*5349C>A | |
| ENST00000468300.5:c.*80C>A | ENSP00000417148.1:n.*80C>A | |
| ENST00000471181.6:c.5629C>A | ENSP00000418960.2:p.Pro1877Thr | |
| ENST00000491747.6:c.2254C>A | ENSP00000420705.2:p.Pro752Thr | |
| ENST00000493795.5:c.5425C>A | ENSP00000418775.1:p.Pro1809Thr | |
| ENST00000586385.5:c.496C>A | ENSP00000465818.1:p.Pro166Thr | |
| ENST00000591534.5:c.1039C>A | ENSP00000467329.1:p.Pro347Thr | |
| ENST00000591849.5:c.265C>A | ENSP00000465347.1:p.Pro89Thr | |
| NM_007294.3:c.5566C>A , LRG_292t1:c.5566C>A | NP_009225.1:p.Pro1856Thr | |
| NM_007297.3:c.5425C>A | NP_009228.2:p.Pro1809Thr | |
| NM_007298.3:c.2254C>A | NP_009229.2:p.Pro752Thr | |
| NM_007299.3:c.*80C>A | NP_009230.2:n.*80C>A | |
| NM_007300.3:c.5629C>A | NP_009231.2:p.Pro1877Thr | |
| NR_027676.1:n.5702C>A | ||
| NM_007294.4:c.5566C>A MANE Select | NP_009225.1:p.Pro1856Thr | |
| NM_007297.4:c.5425C>A | NP_009228.2:p.Pro1809Thr | |
| NM_007299.4:c.*80C>A | NP_009230.2:n.*80C>A | |
| NM_007300.4:c.5629C>A | NP_009231.2:p.Pro1877Thr | |
| NR_027676.2:n.5743C>A |