Linked Data
dbSNP Id:
rs11871753
gnomAD v2:
17-59856645-A-G
gnomAD v3:
17-61779284-A-G
gnomAD v4:
17-61779284-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61779284A>G , CM000679.2:g.61779284A>G | GRCh38 |
| NC_000017.10:g.59856645A>G , CM000679.1:g.59856645A>G | GRCh37 |
| NC_000017.9:g.57211427A>G | NCBI36 |
| NG_007409.2:g.89276T>C , LRG_300:g.89276T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000579028.2:c.1517+977T>C | ENSP00000463827.2:n.1517+977T>C | |
| ENST00000584322.2:c.1935+977T>C | ENSP00000463272.2:n.1935+977T>C | |
| ENST00000682066.1:c.1428+977T>C | ENSP00000507191.1:n.1428+977T>C | |
| ENST00000682073.1:n.675+977T>C | ||
| ENST00000682453.1:c.1935+977T>C | ENSP00000506943.1:n.1935+977T>C | |
| ENST00000682477.1:c.*1361+977T>C | ENSP00000507075.1:n.*1361+977T>C | |
| ENST00000682589.1:n.5091T>C | ||
| ENST00000682611.1:c.1429-506T>C | ENSP00000508326.1:n.1429-506T>C | |
| ENST00000682755.1:c.1713+977T>C | ENSP00000507660.1:n.1713+977T>C | |
| ENST00000682989.1:c.1935+977T>C | ENSP00000507786.1:n.1935+977T>C | |
| ENST00000683039.1:c.1935+977T>C | ENSP00000508303.1:n.1935+977T>C | |
| ENST00000683235.1:c.1935+977T>C | ENSP00000507646.1:n.1935+977T>C | |
| ENST00000683381.1:c.1935+977T>C | ENSP00000508184.1:n.1935+977T>C | |
| ENST00000684471.1:n.408+977T>C | ||
| ENST00000684584.1:c.1428+977T>C | ENSP00000508044.1:n.1428+977T>C | |
| ENST00000259008.7:c.1935+977T>C MANE Select | ENSP00000259008.2:n.1935+977T>C | |
| ENST00000259008.6:c.1935+977T>C | ENSP00000259008.2:n.1935+977T>C | |
| ENST00000577598.5:c.1935+977T>C | ENSP00000464654.1:n.1935+977T>C | |
| ENST00000579028.1:c.628+977T>C | ||
| ENST00000583837.5:n.17+977T>C | ||
| NM_032043.2:c.1935+977T>C , LRG_300t1:c.1935+977T>C | NP_114432.2:n.1935+977T>C | |
| XM_011525332.1:c.1935+977T>C | XP_011523634.1:n.1935+977T>C | |
| XM_011525333.1:c.1935+977T>C | XP_011523635.1:n.1935+977T>C | |
| XM_011525334.1:c.1935+977T>C | XP_011523636.1:n.1935+977T>C | |
| XM_011525335.1:c.1935+977T>C | XP_011523637.1:n.1935+977T>C | |
| XM_011525336.1:c.1935+977T>C | XP_011523638.1:n.1935+977T>C | |
| XM_011525337.1:c.1794+1556T>C | XP_011523639.1:n.1794+1556T>C | |
| XM_011525338.1:c.1452+977T>C | XP_011523640.1:n.1452+977T>C | |
| XM_011525339.1:c.1935+977T>C | XP_011523641.1:n.1935+977T>C | |
| XM_011525340.1:c.1935+977T>C | XP_011523642.1:n.1935+977T>C | |
| XM_011525341.1:c.1936-506T>C | XP_011523643.1:n.1936-506T>C | |
| XM_011525332.3:c.1935+977T>C | XP_011523634.1:n.1935+977T>C | |
| XM_011525333.3:c.1935+977T>C | XP_011523635.1:n.1935+977T>C | |
| XM_011525334.2:c.1935+977T>C | XP_011523636.1:n.1935+977T>C | |
| XM_011525335.3:c.1935+977T>C | XP_011523637.1:n.1935+977T>C | |
| XM_011525336.2:c.1935+977T>C | XP_011523638.1:n.1935+977T>C | |
| XM_011525337.2:c.1794+1556T>C | XP_011523639.1:n.1794+1556T>C | |
| XM_011525338.2:c.1452+977T>C | XP_011523640.1:n.1452+977T>C | |
| XM_011525339.3:c.1935+977T>C | XP_011523641.1:n.1935+977T>C | |
| XM_011525340.3:c.1935+977T>C | XP_011523642.1:n.1935+977T>C | |
| XM_011525341.3:c.1936-506T>C | XP_011523643.1:n.1936-506T>C | |
| XM_017025200.1:c.1452+977T>C | XP_016880689.1:n.1452+977T>C | |
| XM_017025201.1:c.1392+977T>C | XP_016880690.1:n.1392+977T>C | |
| XM_017025202.1:c.-531T>C | XP_016880691.1:n.-531T>C | |
| XM_017025203.1:c.-25-506T>C | XP_016880692.1:n.-25-506T>C | |
| NM_032043.3:c.1935+977T>C MANE Select | NP_114432.2:n.1935+977T>C |