Linked Data
ClinVar Variation Id:
1571508
ClinVar RCV Id:
RCV002205882
dbSNP Id:
rs2061297235
gnomAD v4:
17-61683350-C-T
MyVariant Identifiers:
chr17:g.59760711C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683350C>T , CM000679.2:g.61683350C>T | GRCh38 |
| NC_000017.10:g.59760711C>T , CM000679.1:g.59760711C>T | GRCh37 |
| NC_000017.9:g.57115493C>T | NCBI36 |
| NG_007409.2:g.185210G>A , LRG_300:g.185210G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.2436G>A | ||
| ENST00000682453.1:c.3696G>A | ENSP00000506943.1:p.Lys1232= | |
| ENST00000682477.1:c.*3122G>A | ENSP00000507075.1:n.*3122G>A | |
| ENST00000682589.1:n.9573G>A | ||
| ENST00000682755.1:c.3474G>A | ENSP00000507660.1:p.Lys1158= | |
| ENST00000682989.1:c.*787G>A | ENSP00000507786.1:n.*787G>A | |
| ENST00000683039.1:c.3696G>A | ENSP00000508303.1:p.Lys1232= | |
| ENST00000683235.1:c.*1111G>A | ENSP00000507646.1:n.*1111G>A | |
| ENST00000683535.1:n.1826G>A | ||
| ENST00000684584.1:c.2859G>A | ENSP00000508044.1:p.Lys953= | |
| ENST00000684626.1:n.1942G>A | ||
| ENST00000684769.1:c.1886G>A | ENSP00000507691.1:n.1886G>A | |
| ENST00000259008.7:c.3696G>A MANE Select | ENSP00000259008.2:p.Lys1232= | |
| ENST00000259008.6:c.3696G>A | ENSP00000259008.2:p.Lys1232= | |
| NM_032043.2:c.3696G>A , LRG_300t1:c.3696G>A | NP_114432.2:p.Lys1232= | |
| XM_011525332.1:c.3756G>A | XP_011523634.1:p.Lys1252= | |
| XM_011525333.1:c.3756G>A | XP_011523635.1:p.Lys1252= | |
| XM_011525334.1:c.3756G>A | XP_011523636.1:p.Lys1252= | |
| XM_011525335.1:c.3696G>A | XP_011523637.1:p.Lys1232= | |
| XM_011525336.1:c.3636G>A | XP_011523638.1:p.Lys1212= | |
| XM_011525337.1:c.3555G>A | XP_011523639.1:p.Lys1185= | |
| XM_011525338.1:c.3273G>A | XP_011523640.1:p.Lys1091= | |
| XM_011525332.3:c.3756G>A | XP_011523634.1:p.Lys1252= | |
| XM_011525333.3:c.3756G>A | XP_011523635.1:p.Lys1252= | |
| XM_011525334.2:c.3756G>A | XP_011523636.1:p.Lys1252= | |
| XM_011525335.3:c.3696G>A | XP_011523637.1:p.Lys1232= | |
| XM_011525336.2:c.3636G>A | XP_011523638.1:p.Lys1212= | |
| XM_011525337.2:c.3555G>A | XP_011523639.1:p.Lys1185= | |
| XM_011525338.2:c.3273G>A | XP_011523640.1:p.Lys1091= | |
| XM_017025200.1:c.3213G>A | XP_016880689.1:p.Lys1071= | |
| XM_017025201.1:c.3213G>A | XP_016880690.1:p.Lys1071= | |
| XM_017025202.1:c.1842G>A | XP_016880691.1:p.Lys614= | |
| XM_017025203.1:c.1842G>A | XP_016880692.1:p.Lys614= | |
| NM_032043.3:c.3696G>A MANE Select | NP_114432.2:p.Lys1232= |