Linked Data
ClinVar Variation Id:
2626383
ClinVar RCV Id:
RCV003382363
dbSNP Id:
rs1439742900
MyVariant Identifiers:
chr17:g.59761191G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683830G>C , CM000679.2:g.61683830G>C | GRCh38 |
| NC_000017.10:g.59761191G>C , CM000679.1:g.59761191G>C | GRCh37 |
| NC_000017.9:g.57115973G>C | NCBI36 |
| NG_007409.2:g.184730C>G , LRG_300:g.184730C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.1956C>G | ||
| ENST00000682453.1:c.3216C>G | ENSP00000506943.1:p.Thr1072= | |
| ENST00000682477.1:c.*2642C>G | ENSP00000507075.1:n.*2642C>G | |
| ENST00000682589.1:n.9093C>G | ||
| ENST00000682755.1:c.2994C>G | ENSP00000507660.1:p.Thr998= | |
| ENST00000682989.1:c.*307C>G | ENSP00000507786.1:n.*307C>G | |
| ENST00000683039.1:c.3216C>G | ENSP00000508303.1:p.Thr1072= | |
| ENST00000683235.1:c.*631C>G | ENSP00000507646.1:n.*631C>G | |
| ENST00000683535.1:n.1346C>G | ||
| ENST00000684584.1:c.2379C>G | ENSP00000508044.1:p.Thr793= | |
| ENST00000684626.1:n.1462C>G | ||
| ENST00000684769.1:c.1406C>G | ENSP00000507691.1:n.1406C>G | |
| ENST00000259008.7:c.3216C>G MANE Select | ENSP00000259008.2:p.Thr1072= | |
| ENST00000259008.6:c.3216C>G | ENSP00000259008.2:p.Thr1072= | |
| NM_032043.2:c.3216C>G , LRG_300t1:c.3216C>G | NP_114432.2:p.Thr1072= | |
| XM_011525332.1:c.3276C>G | XP_011523634.1:p.Thr1092= | |
| XM_011525333.1:c.3276C>G | XP_011523635.1:p.Thr1092= | |
| XM_011525334.1:c.3276C>G | XP_011523636.1:p.Thr1092= | |
| XM_011525335.1:c.3216C>G | XP_011523637.1:p.Thr1072= | |
| XM_011525336.1:c.3156C>G | XP_011523638.1:p.Thr1052= | |
| XM_011525337.1:c.3075C>G | XP_011523639.1:p.Thr1025= | |
| XM_011525338.1:c.2793C>G | XP_011523640.1:p.Thr931= | |
| XM_011525332.3:c.3276C>G | XP_011523634.1:p.Thr1092= | |
| XM_011525333.3:c.3276C>G | XP_011523635.1:p.Thr1092= | |
| XM_011525334.2:c.3276C>G | XP_011523636.1:p.Thr1092= | |
| XM_011525335.3:c.3216C>G | XP_011523637.1:p.Thr1072= | |
| XM_011525336.2:c.3156C>G | XP_011523638.1:p.Thr1052= | |
| XM_011525337.2:c.3075C>G | XP_011523639.1:p.Thr1025= | |
| XM_011525338.2:c.2793C>G | XP_011523640.1:p.Thr931= | |
| XM_017025200.1:c.2733C>G | XP_016880689.1:p.Thr911= | |
| XM_017025201.1:c.2733C>G | XP_016880690.1:p.Thr911= | |
| XM_017025202.1:c.1362C>G | XP_016880691.1:p.Thr454= | |
| XM_017025203.1:c.1362C>G | XP_016880692.1:p.Thr454= | |
| NM_032043.3:c.3216C>G MANE Select | NP_114432.2:p.Thr1072= |