Linked Data
ClinVar Variation Id:
182337
ClinVar RCV Id:
RCV000160327
RCV000226626
RCV000573454
RCV000662546
RCV000989974
RCV003492648
RCV001192971
RCV004544466
dbSNP Id:
rs367610893
ExAC:
17:59760848 C / T
gnomAD v2:
17-59760848-C-T
gnomAD v3:
17-61683487-C-T
gnomAD v4:
17-61683487-C-T
PubMed:
PMID:25801821
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683487C>T , CM000679.2:g.61683487C>T | GRCh38 |
| NC_000017.10:g.59760848C>T , CM000679.1:g.59760848C>T | GRCh37 |
| NC_000017.9:g.57115630C>T | NCBI36 |
| NG_007409.2:g.185073G>A , LRG_300:g.185073G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.2299G>A | ||
| ENST00000682453.1:c.3559G>A | ENSP00000506943.1:p.Ala1187Thr | |
| ENST00000682477.1:c.*2985G>A | ENSP00000507075.1:n.*2985G>A | |
| ENST00000682589.1:n.9436G>A | ||
| ENST00000682755.1:c.3337G>A | ENSP00000507660.1:p.Ala1113Thr | |
| ENST00000682989.1:c.*650G>A | ENSP00000507786.1:n.*650G>A | |
| ENST00000683039.1:c.3559G>A | ENSP00000508303.1:p.Ala1187Thr | |
| ENST00000683235.1:c.*974G>A | ENSP00000507646.1:n.*974G>A | |
| ENST00000683535.1:n.1689G>A | ||
| ENST00000684584.1:c.2722G>A | ENSP00000508044.1:p.Ala908Thr | |
| ENST00000684626.1:n.1805G>A | ||
| ENST00000684769.1:c.1749G>A | ENSP00000507691.1:n.1749G>A | |
| ENST00000259008.7:c.3559G>A MANE Select | ENSP00000259008.2:p.Ala1187Thr | |
| ENST00000259008.6:c.3559G>A | ENSP00000259008.2:p.Ala1187Thr | |
| NM_032043.2:c.3559G>A , LRG_300t1:c.3559G>A | NP_114432.2:p.Ala1187Thr | |
| XM_011525332.1:c.3619G>A | XP_011523634.1:p.Ala1207Thr | |
| XM_011525333.1:c.3619G>A | XP_011523635.1:p.Ala1207Thr | |
| XM_011525334.1:c.3619G>A | XP_011523636.1:p.Ala1207Thr | |
| XM_011525335.1:c.3559G>A | XP_011523637.1:p.Ala1187Thr | |
| XM_011525336.1:c.3499G>A | XP_011523638.1:p.Ala1167Thr | |
| XM_011525337.1:c.3418G>A | XP_011523639.1:p.Ala1140Thr | |
| XM_011525338.1:c.3136G>A | XP_011523640.1:p.Ala1046Thr | |
| XM_011525332.3:c.3619G>A | XP_011523634.1:p.Ala1207Thr | |
| XM_011525333.3:c.3619G>A | XP_011523635.1:p.Ala1207Thr | |
| XM_011525334.2:c.3619G>A | XP_011523636.1:p.Ala1207Thr | |
| XM_011525335.3:c.3559G>A | XP_011523637.1:p.Ala1187Thr | |
| XM_011525336.2:c.3499G>A | XP_011523638.1:p.Ala1167Thr | |
| XM_011525337.2:c.3418G>A | XP_011523639.1:p.Ala1140Thr | |
| XM_011525338.2:c.3136G>A | XP_011523640.1:p.Ala1046Thr | |
| XM_017025200.1:c.3076G>A | XP_016880689.1:p.Ala1026Thr | |
| XM_017025201.1:c.3076G>A | XP_016880690.1:p.Ala1026Thr | |
| XM_017025202.1:c.1705G>A | XP_016880691.1:p.Ala569Thr | |
| XM_017025203.1:c.1705G>A | XP_016880692.1:p.Ala569Thr | |
| NM_032043.3:c.3559G>A MANE Select | NP_114432.2:p.Ala1187Thr |