Linked Data
ClinVar Variation Id:
55174
dbSNP Id:
rs80357486
ExAC:
17:41234436 T / C
gnomAD v2:
17-41234436-T-C
gnomAD v3:
17-43082419-T-C
gnomAD v4:
17-43082419-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43082419T>C , CM000679.2:g.43082419T>C | GRCh38 |
| NC_000017.10:g.41234436T>C , CM000679.1:g.41234436T>C | GRCh37 |
| NC_000017.9:g.38487962T>C | NCBI36 |
| NG_005905.2:g.135565A>G , LRG_292:g.135565A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4342A>G | ENSP00000417241.2:p.Ser1448Gly | |
| ENST00000470026.6:c.4342A>G | ENSP00000419274.2:p.Ser1448Gly | |
| ENST00000473961.6:c.4216A>G | ENSP00000420201.2:p.Ser1406Gly | |
| ENST00000476777.6:c.4336A>G | ENSP00000417554.2:p.Ser1446Gly | |
| ENST00000477152.6:c.4264A>G | ENSP00000419988.2:p.Ser1422Gly | |
| ENST00000478531.6:c.1030A>G | ENSP00000420412.2:p.Ser344Gly | |
| ENST00000489037.2:c.4264A>G | ENSP00000420781.2:p.Ser1422Gly | |
| ENST00000493919.6:c.892A>G | ENSP00000418819.2:p.Ser298Gly | |
| ENST00000494123.6:c.4342A>G | ENSP00000419103.2:p.Ser1448Gly | |
| ENST00000497488.2:c.3454A>G | ENSP00000418986.2:p.Ser1152Gly | |
| ENST00000618469.2:c.4342A>G | ENSP00000478114.2:p.Ser1448Gly | |
| ENST00000634433.2:c.4219A>G | ENSP00000489431.2:p.Ser1407Gly | |
| ENST00000644379.2:c.4342A>G | ENSP00000496570.2:p.Ser1448Gly | |
| ENST00000644555.2:c.892A>G | ENSP00000494614.2:p.Ser298Gly | |
| ENST00000652672.2:c.4201A>G | ENSP00000498906.2:p.Ser1401Gly | |
| ENST00000484087.6:c.907A>G | ENSP00000419481.2:p.Ser303Gly | |
| ENST00000700182.1:c.952A>G | ENSP00000514849.1:p.Ser318Gly | |
| ENST00000357654.9:c.4342A>G MANE Select | ENSP00000350283.3:p.Ser1448Gly | |
| ENST00000471181.7:c.4342A>G | ENSP00000418960.2:p.Ser1448Gly | |
| ENST00000644379.1:c.663A>G | ||
| ENST00000352993.7:c.916A>G | ENSP00000312236.5:p.Ser306Gly | |
| ENST00000357654.7:c.4342A>G | ENSP00000350283.3:p.Ser1448Gly | |
| ENST00000461221.5:c.*4125A>G | ENSP00000418548.1:n.*4125A>G | |
| ENST00000461574.1:c.636A>G | ||
| ENST00000468300.5:c.1033A>G | ENSP00000417148.1:p.Ser345Gly | |
| ENST00000471181.6:c.4342A>G | ENSP00000418960.2:p.Ser1448Gly | |
| ENST00000478531.5:c.1030A>G | ENSP00000420412.1:p.Ser344Gly | |
| ENST00000484087.5:c.655A>G | ENSP00000419481.1:p.Ser219Gly | |
| ENST00000487825.5:c.658A>G | ENSP00000418212.1:p.Ser220Gly | |
| ENST00000491747.6:c.1033A>G | ENSP00000420705.2:p.Ser345Gly | |
| ENST00000493795.5:c.4201A>G | ENSP00000418775.1:p.Ser1401Gly | |
| ENST00000493919.5:c.892A>G | ENSP00000418819.1:p.Ser298Gly | |
| ENST00000586385.5:c.5-18468A>G | ENSP00000465818.1:n.5-18468A>G | |
| ENST00000591534.5:c.-43-7898A>G | ENSP00000467329.1:n.-43-7898A>G | |
| ENST00000591849.5:c.-98-32229A>G | ENSP00000465347.1:n.-98-32229A>G | |
| ENST00000621897.1:n.236A>G | ||
| NM_007294.3:c.4342A>G , LRG_292t1:c.4342A>G | NP_009225.1:p.Ser1448Gly | |
| NM_007297.3:c.4201A>G | NP_009228.2:p.Ser1401Gly | |
| NM_007298.3:c.1033A>G | NP_009229.2:p.Ser345Gly | |
| NM_007299.3:c.1033A>G | NP_009230.2:p.Ser345Gly | |
| NM_007300.3:c.4342A>G | NP_009231.2:p.Ser1448Gly | |
| NR_027676.1:n.4478A>G | ||
| NM_007294.4:c.4342A>G MANE Select | NP_009225.1:p.Ser1448Gly | |
| NM_007297.4:c.4201A>G | NP_009228.2:p.Ser1401Gly | |
| NM_007299.4:c.1033A>G | NP_009230.2:p.Ser345Gly | |
| NM_007300.4:c.4342A>G | NP_009231.2:p.Ser1448Gly | |
| NR_027676.2:n.4519A>G |