Linked Data
ClinVar Variation Id:
232067
dbSNP Id:
rs876659533
gnomAD v2:
17-59853806-G-A
gnomAD v3:
17-61776445-G-A
gnomAD v4:
17-61776445-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61776445G>A , CM000679.2:g.61776445G>A | GRCh38 |
| NC_000017.10:g.59853806G>A , CM000679.1:g.59853806G>A | GRCh37 |
| NC_000017.9:g.57208588G>A | NCBI36 |
| NG_007409.2:g.92115C>T , LRG_300:g.92115C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000579028.2:c.1635C>T | ENSP00000463827.2:n.1635C>T | |
| ENST00000584322.2:c.2053C>T | ENSP00000463272.2:p.Gln685Ter | |
| ENST00000682066.1:c.1546C>T | ENSP00000507191.1:p.Gln516Ter | |
| ENST00000682073.1:n.793C>T | ||
| ENST00000682433.1:n.1132C>T | ||
| ENST00000682453.1:c.2053C>T | ENSP00000506943.1:p.Gln685Ter | |
| ENST00000682477.1:c.*1479C>T | ENSP00000507075.1:n.*1479C>T | |
| ENST00000682589.1:n.7930C>T | ||
| ENST00000682611.1:c.1712C>T | ENSP00000508326.1:n.1712C>T | |
| ENST00000682755.1:c.1831C>T | ENSP00000507660.1:p.Gln611Ter | |
| ENST00000682989.1:c.2053C>T | ENSP00000507786.1:p.Gln685Ter | |
| ENST00000683039.1:c.2053C>T | ENSP00000508303.1:p.Gln685Ter | |
| ENST00000683235.1:c.2053C>T | ENSP00000507646.1:p.Gln685Ter | |
| ENST00000683381.1:c.2113C>T | ENSP00000508184.1:p.Gln705Ter | |
| ENST00000683535.1:n.183C>T | ||
| ENST00000684471.1:n.466C>T | ||
| ENST00000684584.1:c.1546C>T | ENSP00000508044.1:p.Gln516Ter | |
| ENST00000684769.1:c.118C>T | ENSP00000507691.1:p.Gln40Ter | |
| ENST00000259008.7:c.2053C>T MANE Select | ENSP00000259008.2:p.Gln685Ter | |
| ENST00000259008.6:c.2053C>T | ENSP00000259008.2:p.Gln685Ter | |
| ENST00000577598.5:c.2053C>T | ENSP00000464654.1:p.Gln685Ter | |
| ENST00000579028.1:c.746C>T | ||
| ENST00000583837.5:n.135C>T | ||
| ENST00000584322.1:c.36C>T | ||
| NM_032043.2:c.2053C>T , LRG_300t1:c.2053C>T | NP_114432.2:p.Gln685Ter | |
| XM_011525332.1:c.2113C>T | XP_011523634.1:p.Gln705Ter | |
| XM_011525333.1:c.2113C>T | XP_011523635.1:p.Gln705Ter | |
| XM_011525334.1:c.2113C>T | XP_011523636.1:p.Gln705Ter | |
| XM_011525335.1:c.2053C>T | XP_011523637.1:p.Gln685Ter | |
| XM_011525336.1:c.1993C>T | XP_011523638.1:p.Gln665Ter | |
| XM_011525337.1:c.1912C>T | XP_011523639.1:p.Gln638Ter | |
| XM_011525338.1:c.1630C>T | XP_011523640.1:p.Gln544Ter | |
| XM_011525339.1:c.2113C>T | XP_011523641.1:p.Gln705Ter | |
| XM_011525340.1:c.2113C>T | XP_011523642.1:p.Gln705Ter | |
| XM_011525332.3:c.2113C>T | XP_011523634.1:p.Gln705Ter | |
| XM_011525333.3:c.2113C>T | XP_011523635.1:p.Gln705Ter | |
| XM_011525334.2:c.2113C>T | XP_011523636.1:p.Gln705Ter | |
| XM_011525335.3:c.2053C>T | XP_011523637.1:p.Gln685Ter | |
| XM_011525336.2:c.1993C>T | XP_011523638.1:p.Gln665Ter | |
| XM_011525337.2:c.1912C>T | XP_011523639.1:p.Gln638Ter | |
| XM_011525338.2:c.1630C>T | XP_011523640.1:p.Gln544Ter | |
| XM_011525339.3:c.2113C>T | XP_011523641.1:p.Gln705Ter | |
| XM_011525340.3:c.2113C>T | XP_011523642.1:p.Gln705Ter | |
| XM_017025200.1:c.1570C>T | XP_016880689.1:p.Gln524Ter | |
| XM_017025201.1:c.1570C>T | XP_016880690.1:p.Gln524Ter | |
| XM_017025202.1:c.199C>T | XP_016880691.1:p.Gln67Ter | |
| XM_017025203.1:c.199C>T | XP_016880692.1:p.Gln67Ter | |
| NM_032043.3:c.2053C>T MANE Select | NP_114432.2:p.Gln685Ter |