Linked Data
dbSNP Id:
rs778707598
ExAC:
17:41228586 T / C
gnomAD v2:
17-41228586-T-C
gnomAD v4:
17-43076569-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43076569T>C , CM000679.2:g.43076569T>C | GRCh38 |
| NC_000017.10:g.41228586T>C , CM000679.1:g.41228586T>C | GRCh37 |
| NC_000017.9:g.38482112T>C | NCBI36 |
| NG_005905.2:g.141415A>G , LRG_292:g.141415A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4400A>G | ENSP00000417241.2:p.Asn1467Ser | |
| ENST00000470026.6:c.4403A>G | ENSP00000419274.2:p.Asn1468Ser | |
| ENST00000473961.6:c.4277A>G | ENSP00000420201.2:p.Asn1426Ser | |
| ENST00000476777.6:c.4397A>G | ENSP00000417554.2:p.Asn1466Ser | |
| ENST00000477152.6:c.4325A>G | ENSP00000419988.2:p.Asn1442Ser | |
| ENST00000478531.6:c.1091A>G | ENSP00000420412.2:p.Asn364Ser | |
| ENST00000489037.2:c.4325A>G | ENSP00000420781.2:p.Asn1442Ser | |
| ENST00000493919.6:c.953A>G | ENSP00000418819.2:p.Asn318Ser | |
| ENST00000494123.6:c.4403A>G | ENSP00000419103.2:p.Asn1468Ser | |
| ENST00000497488.2:c.3515A>G | ENSP00000418986.2:p.Asn1172Ser | |
| ENST00000618469.2:c.4403A>G | ENSP00000478114.2:p.Asn1468Ser | |
| ENST00000634433.2:c.4280A>G | ENSP00000489431.2:p.Asn1427Ser | |
| ENST00000644379.2:c.4469A>G | ENSP00000496570.2:p.Asn1490Ser | |
| ENST00000644555.2:c.953A>G | ENSP00000494614.2:p.Asn318Ser | |
| ENST00000652672.2:c.4262A>G | ENSP00000498906.2:p.Asn1421Ser | |
| ENST00000484087.6:c.965A>G | ENSP00000419481.2:p.Asn322Ser | |
| ENST00000700182.1:c.1010A>G | ENSP00000514849.1:p.Asn337Ser | |
| ENST00000357654.9:c.4403A>G MANE Select | ENSP00000350283.3:p.Asn1468Ser | |
| ENST00000471181.7:c.4466A>G | ENSP00000418960.2:p.Asn1489Ser | |
| ENST00000644379.1:c.790A>G | ||
| ENST00000352993.7:c.977A>G | ENSP00000312236.5:p.Asn326Ser | |
| ENST00000357654.7:c.4403A>G | ENSP00000350283.3:p.Asn1468Ser | |
| ENST00000461221.5:c.*4186A>G | ENSP00000418548.1:n.*4186A>G | |
| ENST00000461574.1:c.694A>G | ||
| ENST00000468300.5:c.1091A>G | ENSP00000417148.1:p.Asn364Ser | |
| ENST00000471181.6:c.4466A>G | ENSP00000418960.2:p.Asn1489Ser | |
| ENST00000478531.5:c.1091A>G | ENSP00000420412.1:p.Asn364Ser | |
| ENST00000484087.5:c.716A>G | ENSP00000419481.1:p.Asn239Ser | |
| ENST00000487825.5:c.719A>G | ENSP00000418212.1:p.Asn240Ser | |
| ENST00000491747.6:c.1091A>G | ENSP00000420705.2:p.Asn364Ser | |
| ENST00000493795.5:c.4262A>G | ENSP00000418775.1:p.Asn1421Ser | |
| ENST00000493919.5:c.953A>G | ENSP00000418819.1:p.Asn318Ser | |
| ENST00000586385.5:c.5-12618A>G | ENSP00000465818.1:n.5-12618A>G | |
| ENST00000591534.5:c.-43-2048A>G | ENSP00000467329.1:n.-43-2048A>G | |
| ENST00000591849.5:c.-98-26379A>G | ENSP00000465347.1:n.-98-26379A>G | |
| ENST00000621897.1:n.294A>G | ||
| NM_007294.3:c.4403A>G , LRG_292t1:c.4403A>G | NP_009225.1:p.Asn1468Ser | |
| NM_007297.3:c.4262A>G | NP_009228.2:p.Asn1421Ser | |
| NM_007298.3:c.1091A>G | NP_009229.2:p.Asn364Ser | |
| NM_007299.3:c.1091A>G | NP_009230.2:p.Asn364Ser | |
| NM_007300.3:c.4466A>G | NP_009231.2:p.Asn1489Ser | |
| NR_027676.1:n.4539A>G | ||
| NM_007294.4:c.4403A>G MANE Select | NP_009225.1:p.Asn1468Ser | |
| NM_007297.4:c.4262A>G | NP_009228.2:p.Asn1421Ser | |
| NM_007299.4:c.1091A>G | NP_009230.2:p.Asn364Ser | |
| NM_007300.4:c.4466A>G | NP_009231.2:p.Asn1489Ser | |
| NR_027676.2:n.4580A>G |