Linked Data
ClinVar Variation Id:
430591
ClinVar RCV Id:
RCV000504601
RCV000657691
RCV000694900
RCV001554339
RCV000576013
RCV003492076
RCV003335408
dbSNP Id:
rs1257401983
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61744445G>C , CM000679.2:g.61744445G>C | GRCh38 |
| NC_000017.10:g.59821806G>C , CM000679.1:g.59821806G>C | GRCh37 |
| NC_000017.9:g.57176588G>C | NCBI36 |
| NG_007409.2:g.124115C>G , LRG_300:g.124115C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000579028.2:c.1826C>G | ENSP00000463827.2:n.1826C>G | |
| ENST00000584322.2:c.2244C>G | ENSP00000463272.2:p.Tyr748Ter | |
| ENST00000682066.1:c.2374C>G | ENSP00000507191.1:n.2374C>G | |
| ENST00000682073.1:n.984C>G | ||
| ENST00000682433.1:n.1323C>G | ||
| ENST00000682453.1:c.2244C>G | ENSP00000506943.1:p.Tyr748Ter | |
| ENST00000682477.1:c.*1670C>G | ENSP00000507075.1:n.*1670C>G | |
| ENST00000682589.1:n.8121C>G | ||
| ENST00000682755.1:c.2022C>G | ENSP00000507660.1:p.Tyr674Ter | |
| ENST00000682989.1:c.2244C>G | ENSP00000507786.1:p.Tyr748Ter | |
| ENST00000683039.1:c.2244C>G | ENSP00000508303.1:p.Tyr748Ter | |
| ENST00000683235.1:c.2244C>G | ENSP00000507646.1:p.Tyr748Ter | |
| ENST00000683381.1:c.2304C>G | ENSP00000508184.1:p.Tyr768Ter | |
| ENST00000683535.1:n.374C>G | ||
| ENST00000684471.1:n.657C>G | ||
| ENST00000684584.1:c.1737C>G | ENSP00000508044.1:p.Tyr579Ter | |
| ENST00000684769.1:c.309C>G | ENSP00000507691.1:p.Tyr103Ter | |
| ENST00000259008.7:c.2244C>G MANE Select | ENSP00000259008.2:p.Tyr748Ter | |
| ENST00000259008.6:c.2244C>G | ENSP00000259008.2:p.Tyr748Ter | |
| ENST00000577598.5:c.2244C>G | ENSP00000464654.1:p.Tyr748Ter | |
| ENST00000584322.1:c.227C>G | ||
| NM_032043.2:c.2244C>G , LRG_300t1:c.2244C>G | NP_114432.2:p.Tyr748Ter | |
| XM_011525332.1:c.2304C>G | XP_011523634.1:p.Tyr768Ter | |
| XM_011525333.1:c.2304C>G | XP_011523635.1:p.Tyr768Ter | |
| XM_011525334.1:c.2304C>G | XP_011523636.1:p.Tyr768Ter | |
| XM_011525335.1:c.2244C>G | XP_011523637.1:p.Tyr748Ter | |
| XM_011525336.1:c.2184C>G | XP_011523638.1:p.Tyr728Ter | |
| XM_011525337.1:c.2103C>G | XP_011523639.1:p.Tyr701Ter | |
| XM_011525338.1:c.1821C>G | XP_011523640.1:p.Tyr607Ter | |
| XM_011525339.1:c.2304C>G | XP_011523641.1:p.Tyr768Ter | |
| XM_011525340.1:c.2304C>G | XP_011523642.1:p.Tyr768Ter | |
| XM_011525332.3:c.2304C>G | XP_011523634.1:p.Tyr768Ter | |
| XM_011525333.3:c.2304C>G | XP_011523635.1:p.Tyr768Ter | |
| XM_011525334.2:c.2304C>G | XP_011523636.1:p.Tyr768Ter | |
| XM_011525335.3:c.2244C>G | XP_011523637.1:p.Tyr748Ter | |
| XM_011525336.2:c.2184C>G | XP_011523638.1:p.Tyr728Ter | |
| XM_011525337.2:c.2103C>G | XP_011523639.1:p.Tyr701Ter | |
| XM_011525338.2:c.1821C>G | XP_011523640.1:p.Tyr607Ter | |
| XM_011525339.3:c.2304C>G | XP_011523641.1:p.Tyr768Ter | |
| XM_011525340.3:c.2304C>G | XP_011523642.1:p.Tyr768Ter | |
| XM_017025200.1:c.1761C>G | XP_016880689.1:p.Tyr587Ter | |
| XM_017025201.1:c.1761C>G | XP_016880690.1:p.Tyr587Ter | |
| XM_017025202.1:c.390C>G | XP_016880691.1:p.Tyr130Ter | |
| XM_017025203.1:c.390C>G | XP_016880692.1:p.Tyr130Ter | |
| NM_032043.3:c.2244C>G MANE Select | NP_114432.2:p.Tyr748Ter |