Linked Data
ClinVar Variation Id:
186189
ClinVar RCV Id:
RCV000165735
RCV000410856
RCV000412383
RCV000542964
RCV001778762
RCV001847787
RCV003316047
dbSNP Id:
rs786202760
gnomAD v4:
17-61776557-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61776557C>A , CM000679.2:g.61776557C>A | GRCh38 |
| NC_000017.10:g.59853918C>A , CM000679.1:g.59853918C>A | GRCh37 |
| NC_000017.9:g.57208700C>A | NCBI36 |
| NG_007409.2:g.92003G>T , LRG_300:g.92003G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000579028.2:c.1523G>T | ENSP00000463827.2:n.1523G>T | |
| ENST00000584322.2:c.1941G>T | ENSP00000463272.2:p.Trp647Cys | |
| ENST00000682066.1:c.1434G>T | ENSP00000507191.1:p.Trp478Cys | |
| ENST00000682073.1:n.681G>T | ||
| ENST00000682433.1:n.1020G>T | ||
| ENST00000682453.1:c.1941G>T | ENSP00000506943.1:p.Trp647Cys | |
| ENST00000682477.1:c.*1367G>T | ENSP00000507075.1:n.*1367G>T | |
| ENST00000682589.1:n.7818G>T | ||
| ENST00000682611.1:c.1600G>T | ENSP00000508326.1:n.1600G>T | |
| ENST00000682755.1:c.1719G>T | ENSP00000507660.1:p.Trp573Cys | |
| ENST00000682989.1:c.1941G>T | ENSP00000507786.1:p.Trp647Cys | |
| ENST00000683039.1:c.1941G>T | ENSP00000508303.1:p.Trp647Cys | |
| ENST00000683235.1:c.1941G>T | ENSP00000507646.1:p.Trp647Cys | |
| ENST00000683381.1:c.2001G>T | ENSP00000508184.1:p.Trp667Cys | |
| ENST00000683535.1:n.71G>T | ||
| ENST00000684471.1:n.409-55G>T | ||
| ENST00000684584.1:c.1434G>T | ENSP00000508044.1:p.Trp478Cys | |
| ENST00000684769.1:c.6G>T | ENSP00000507691.1:p.Trp2Cys | |
| ENST00000259008.7:c.1941G>T MANE Select | ENSP00000259008.2:p.Trp647Cys | |
| ENST00000259008.6:c.1941G>T | ENSP00000259008.2:p.Trp647Cys | |
| ENST00000577598.5:c.1941G>T | ENSP00000464654.1:p.Trp647Cys | |
| ENST00000579028.1:c.634G>T | ||
| ENST00000583837.5:n.23G>T | ||
| NM_032043.2:c.1941G>T , LRG_300t1:c.1941G>T | NP_114432.2:p.Trp647Cys | |
| XM_011525332.1:c.2001G>T | XP_011523634.1:p.Trp667Cys | |
| XM_011525333.1:c.2001G>T | XP_011523635.1:p.Trp667Cys | |
| XM_011525334.1:c.2001G>T | XP_011523636.1:p.Trp667Cys | |
| XM_011525335.1:c.1996-55G>T | XP_011523637.1:n.1996-55G>T | |
| XM_011525336.1:c.1936-55G>T | XP_011523638.1:n.1936-55G>T | |
| XM_011525337.1:c.1800G>T | XP_011523639.1:p.Trp600Cys | |
| XM_011525338.1:c.1518G>T | XP_011523640.1:p.Trp506Cys | |
| XM_011525339.1:c.2001G>T | XP_011523641.1:p.Trp667Cys | |
| XM_011525340.1:c.2001G>T | XP_011523642.1:p.Trp667Cys | |
| XM_011525332.3:c.2001G>T | XP_011523634.1:p.Trp667Cys | |
| XM_011525333.3:c.2001G>T | XP_011523635.1:p.Trp667Cys | |
| XM_011525334.2:c.2001G>T | XP_011523636.1:p.Trp667Cys | |
| XM_011525335.3:c.1996-55G>T | XP_011523637.1:n.1996-55G>T | |
| XM_011525336.2:c.1936-55G>T | XP_011523638.1:n.1936-55G>T | |
| XM_011525337.2:c.1800G>T | XP_011523639.1:p.Trp600Cys | |
| XM_011525338.2:c.1518G>T | XP_011523640.1:p.Trp506Cys | |
| XM_011525339.3:c.2001G>T | XP_011523641.1:p.Trp667Cys | |
| XM_011525340.3:c.2001G>T | XP_011523642.1:p.Trp667Cys | |
| XM_017025200.1:c.1458G>T | XP_016880689.1:p.Trp486Cys | |
| XM_017025201.1:c.1458G>T | XP_016880690.1:p.Trp486Cys | |
| XM_017025202.1:c.87G>T | XP_016880691.1:p.Trp29Cys | |
| XM_017025203.1:c.87G>T | XP_016880692.1:p.Trp29Cys | |
| NM_032043.3:c.1941G>T MANE Select | NP_114432.2:p.Trp647Cys |