Linked Data
dbSNP Id:
rs1403337608
gnomAD v2:
17-59835835-A-C
gnomAD v3:
17-61758474-A-C
gnomAD v4:
17-61758474-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61758474A>C , CM000679.2:g.61758474A>C | GRCh38 |
| NC_000017.10:g.59835835A>C , CM000679.1:g.59835835A>C | GRCh37 |
| NC_000017.9:g.57190617A>C | NCBI36 |
| NG_007409.2:g.110086T>G , LRG_300:g.110086T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000579028.2:c.1680-13883T>G | ENSP00000463827.2:n.1680-13883T>G | |
| ENST00000584322.2:c.2098-13883T>G | ENSP00000463272.2:n.2098-13883T>G | |
| ENST00000682066.1:c.2227+200T>G | ENSP00000507191.1:n.2227+200T>G | |
| ENST00000682073.1:n.838-13883T>G | ||
| ENST00000682433.1:n.1177-13883T>G | ||
| ENST00000682453.1:c.2098-13883T>G | ENSP00000506943.1:n.2098-13883T>G | |
| ENST00000682477.1:c.*1524-13883T>G | ENSP00000507075.1:n.*1524-13883T>G | |
| ENST00000682589.1:n.7975-13883T>G | ||
| ENST00000682755.1:c.1876-13883T>G | ENSP00000507660.1:n.1876-13883T>G | |
| ENST00000682989.1:c.2098-13883T>G | ENSP00000507786.1:n.2098-13883T>G | |
| ENST00000683039.1:c.2098-13883T>G | ENSP00000508303.1:n.2098-13883T>G | |
| ENST00000683235.1:c.2098-13883T>G | ENSP00000507646.1:n.2098-13883T>G | |
| ENST00000683381.1:c.2158-13883T>G | ENSP00000508184.1:n.2158-13883T>G | |
| ENST00000683535.1:n.228-13883T>G | ||
| ENST00000684471.1:n.511-13883T>G | ||
| ENST00000684584.1:c.1591-13883T>G | ENSP00000508044.1:n.1591-13883T>G | |
| ENST00000684769.1:c.163-13883T>G | ENSP00000507691.1:n.163-13883T>G | |
| ENST00000259008.7:c.2098-13883T>G MANE Select | ENSP00000259008.2:n.2098-13883T>G | |
| ENST00000259008.6:c.2098-13883T>G | ENSP00000259008.2:n.2098-13883T>G | |
| ENST00000577598.5:c.2098-13883T>G | ENSP00000464654.1:n.2098-13883T>G | |
| ENST00000584322.1:c.81-13883T>G | ||
| NM_032043.2:c.2098-13883T>G , LRG_300t1:c.2098-13883T>G | NP_114432.2:n.2098-13883T>G | |
| XM_011525332.1:c.2158-13883T>G | XP_011523634.1:n.2158-13883T>G | |
| XM_011525333.1:c.2158-13883T>G | XP_011523635.1:n.2158-13883T>G | |
| XM_011525334.1:c.2158-13883T>G | XP_011523636.1:n.2158-13883T>G | |
| XM_011525335.1:c.2098-13883T>G | XP_011523637.1:n.2098-13883T>G | |
| XM_011525336.1:c.2038-13883T>G | XP_011523638.1:n.2038-13883T>G | |
| XM_011525337.1:c.1957-13883T>G | XP_011523639.1:n.1957-13883T>G | |
| XM_011525338.1:c.1675-13883T>G | XP_011523640.1:n.1675-13883T>G | |
| XM_011525339.1:c.2158-13883T>G | XP_011523641.1:n.2158-13883T>G | |
| XM_011525340.1:c.2158-13883T>G | XP_011523642.1:n.2158-13883T>G | |
| XM_011525332.3:c.2158-13883T>G | XP_011523634.1:n.2158-13883T>G | |
| XM_011525333.3:c.2158-13883T>G | XP_011523635.1:n.2158-13883T>G | |
| XM_011525334.2:c.2158-13883T>G | XP_011523636.1:n.2158-13883T>G | |
| XM_011525335.3:c.2098-13883T>G | XP_011523637.1:n.2098-13883T>G | |
| XM_011525336.2:c.2038-13883T>G | XP_011523638.1:n.2038-13883T>G | |
| XM_011525337.2:c.1957-13883T>G | XP_011523639.1:n.1957-13883T>G | |
| XM_011525338.2:c.1675-13883T>G | XP_011523640.1:n.1675-13883T>G | |
| XM_011525339.3:c.2158-13883T>G | XP_011523641.1:n.2158-13883T>G | |
| XM_011525340.3:c.2158-13883T>G | XP_011523642.1:n.2158-13883T>G | |
| XM_017025200.1:c.1615-13883T>G | XP_016880689.1:n.1615-13883T>G | |
| XM_017025201.1:c.1615-13883T>G | XP_016880690.1:n.1615-13883T>G | |
| XM_017025202.1:c.244-13883T>G | XP_016880691.1:n.244-13883T>G | |
| XM_017025203.1:c.244-13883T>G | XP_016880692.1:n.244-13883T>G | |
| NM_032043.3:c.2098-13883T>G MANE Select | NP_114432.2:n.2098-13883T>G |