Linked Data
ClinVar Variation Id:
531289
ClinVar RCV Id:
RCV001578273
dbSNP Id:
rs80356853
MutSpliceDB:
CA500146299
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43067609T>G , CM000679.2:g.43067609T>G | GRCh38 |
| NC_000017.10:g.41219626T>G , CM000679.1:g.41219626T>G | GRCh37 |
| NC_000017.9:g.38473152T>G | NCBI36 |
| NG_005905.2:g.150375A>C , LRG_292:g.150375A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461574.2:c.5070A>C | ENSP00000417241.2:p.Thr1690= | |
| ENST00000470026.6:c.5073A>C | ENSP00000419274.2:p.Thr1691= | |
| ENST00000473961.6:c.4947A>C | ENSP00000420201.2:p.Thr1649= | |
| ENST00000476777.6:c.5067A>C | ENSP00000417554.2:p.Thr1689= | |
| ENST00000477152.6:c.4995A>C | ENSP00000419988.2:p.Thr1665= | |
| ENST00000478531.6:c.1761A>C | ENSP00000420412.2:p.Thr587= | |
| ENST00000489037.2:c.4995A>C | ENSP00000420781.2:p.Thr1665= | |
| ENST00000493919.6:c.1623A>C | ENSP00000418819.2:p.Thr541= | |
| ENST00000494123.6:c.5073A>C | ENSP00000419103.2:p.Thr1691= | |
| ENST00000497488.2:c.4185A>C | ENSP00000418986.2:p.Thr1395= | |
| ENST00000618469.2:c.5073A>C | ENSP00000478114.2:p.Thr1691= | |
| ENST00000634433.2:c.4950A>C | ENSP00000489431.2:p.Thr1650= | |
| ENST00000644379.2:c.5139A>C | ENSP00000496570.2:p.Thr1713= | |
| ENST00000644555.2:c.1623A>C | ENSP00000494614.2:p.Thr541= | |
| ENST00000652672.2:c.4932A>C | ENSP00000498906.2:p.Thr1644= | |
| ENST00000484087.6:c.1635A>C | ENSP00000419481.2:p.Thr545= | |
| ENST00000357654.9:c.5073A>C MANE Select | ENSP00000350283.3:p.Thr1691= | |
| ENST00000471181.7:c.5136A>C | ENSP00000418960.2:p.Thr1712= | |
| ENST00000644379.1:c.1460A>C | ||
| ENST00000352993.7:c.1647A>C | ENSP00000312236.5:p.Thr549= | |
| ENST00000357654.7:c.5073A>C | ENSP00000350283.3:p.Thr1691= | |
| ENST00000461221.5:c.*4856A>C | ENSP00000418548.1:n.*4856A>C | |
| ENST00000468300.5:c.1761A>C | ENSP00000417148.1:p.Thr587= | |
| ENST00000471181.6:c.5136A>C | ENSP00000418960.2:p.Thr1712= | |
| ENST00000472490.1:n.226A>C | ||
| ENST00000478531.5:c.1761A>C | ENSP00000420412.1:p.Thr587= | |
| ENST00000484087.5:c.1386A>C | ENSP00000419481.1:p.Thr462= | |
| ENST00000491747.6:c.1761A>C | ENSP00000420705.2:p.Thr587= | |
| ENST00000493795.5:c.4932A>C | ENSP00000418775.1:p.Thr1644= | |
| ENST00000493919.5:c.1623A>C | ENSP00000418819.1:p.Thr541= | |
| ENST00000586385.5:c.5-3658A>C | ENSP00000465818.1:n.5-3658A>C | |
| ENST00000591534.5:c.546A>C | ENSP00000467329.1:p.Thr182= | |
| ENST00000591849.5:c.-98-17419A>C | ENSP00000465347.1:n.-98-17419A>C | |
| NM_007294.3:c.5073A>C , LRG_292t1:c.5073A>C | NP_009225.1:p.Thr1691= | |
| NM_007297.3:c.4932A>C | NP_009228.2:p.Thr1644= | |
| NM_007298.3:c.1761A>C | NP_009229.2:p.Thr587= | |
| NM_007299.3:c.1761A>C | NP_009230.2:p.Thr587= | |
| NM_007300.3:c.5136A>C | NP_009231.2:p.Thr1712= | |
| NR_027676.1:n.5209A>C | ||
| NM_007294.4:c.5073A>C MANE Select | NP_009225.1:p.Thr1691= | |
| NM_007297.4:c.4932A>C | NP_009228.2:p.Thr1644= | |
| NM_007299.4:c.1761A>C | NP_009230.2:p.Thr587= | |
| NM_007300.4:c.5136A>C | NP_009231.2:p.Thr1712= | |
| NR_027676.2:n.5250A>C |