Linked Data
ClinVar Variation Id:
232701
dbSNP Id:
rs758809865
ExAC:
17:59760690 G / A
gnomAD v2:
17-59760690-G-A
gnomAD v3:
17-61683329-G-A
gnomAD v4:
17-61683329-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683329G>A , CM000679.2:g.61683329G>A | GRCh38 |
| NC_000017.10:g.59760690G>A , CM000679.1:g.59760690G>A | GRCh37 |
| NC_000017.9:g.57115472G>A | NCBI36 |
| NG_007409.2:g.185231C>T , LRG_300:g.185231C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.2457C>T | ||
| ENST00000682453.1:c.3717C>T | ENSP00000506943.1:p.Ser1239= | |
| ENST00000682477.1:c.*3143C>T | ENSP00000507075.1:n.*3143C>T | |
| ENST00000682589.1:n.9594C>T | ||
| ENST00000682755.1:c.3495C>T | ENSP00000507660.1:p.Ser1165= | |
| ENST00000682989.1:c.*808C>T | ENSP00000507786.1:n.*808C>T | |
| ENST00000683039.1:c.3717C>T | ENSP00000508303.1:p.Ser1239= | |
| ENST00000683235.1:c.*1132C>T | ENSP00000507646.1:n.*1132C>T | |
| ENST00000683535.1:n.1847C>T | ||
| ENST00000684584.1:c.2880C>T | ENSP00000508044.1:p.Ser960= | |
| ENST00000684626.1:n.1963C>T | ||
| ENST00000684769.1:c.1907C>T | ENSP00000507691.1:n.1907C>T | |
| ENST00000259008.7:c.3717C>T MANE Select | ENSP00000259008.2:p.Ser1239= | |
| ENST00000259008.6:c.3717C>T | ENSP00000259008.2:p.Ser1239= | |
| NM_032043.2:c.3717C>T , LRG_300t1:c.3717C>T | NP_114432.2:p.Ser1239= | |
| XM_011525332.1:c.3777C>T | XP_011523634.1:p.Ser1259= | |
| XM_011525333.1:c.3777C>T | XP_011523635.1:p.Ser1259= | |
| XM_011525334.1:c.3777C>T | XP_011523636.1:p.Ser1259= | |
| XM_011525335.1:c.3717C>T | XP_011523637.1:p.Ser1239= | |
| XM_011525336.1:c.3657C>T | XP_011523638.1:p.Ser1219= | |
| XM_011525337.1:c.3576C>T | XP_011523639.1:p.Ser1192= | |
| XM_011525338.1:c.3294C>T | XP_011523640.1:p.Ser1098= | |
| XM_011525332.3:c.3777C>T | XP_011523634.1:p.Ser1259= | |
| XM_011525333.3:c.3777C>T | XP_011523635.1:p.Ser1259= | |
| XM_011525334.2:c.3777C>T | XP_011523636.1:p.Ser1259= | |
| XM_011525335.3:c.3717C>T | XP_011523637.1:p.Ser1239= | |
| XM_011525336.2:c.3657C>T | XP_011523638.1:p.Ser1219= | |
| XM_011525337.2:c.3576C>T | XP_011523639.1:p.Ser1192= | |
| XM_011525338.2:c.3294C>T | XP_011523640.1:p.Ser1098= | |
| XM_017025200.1:c.3234C>T | XP_016880689.1:p.Ser1078= | |
| XM_017025201.1:c.3234C>T | XP_016880690.1:p.Ser1078= | |
| XM_017025202.1:c.1863C>T | XP_016880691.1:p.Ser621= | |
| XM_017025203.1:c.1863C>T | XP_016880692.1:p.Ser621= | |
| NM_032043.3:c.3717C>T MANE Select | NP_114432.2:p.Ser1239= |