Linked Data
ClinVar Variation Id:
1018100
dbSNP Id:
rs201415050
ExAC:
1:161823100 C / A
gnomAD v2:
1-161823100-C-A
gnomAD v3:
1-161853310-C-A
gnomAD v4:
1-161853310-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161853310C>A , CM000663.2:g.161853310C>A | GRCh38 |
| NC_000001.10:g.161823100C>A , CM000663.1:g.161823100C>A | GRCh37 |
| NC_000001.9:g.160089724C>A | NCBI36 |
| NG_029773.1:g.92067C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367942.4:c.1520C>A MANE Select | ENSP00000356919.3:p.Thr507Asn | |
| ENST00000679833.1:c.1520C>A | ENSP00000505321.1:p.Thr507Asn | |
| ENST00000679853.1:c.1520C>A | ENSP00000506149.1:p.Thr507Asn | |
| ENST00000679886.1:c.914C>A | ENSP00000506559.1:p.Thr305Asn | |
| ENST00000680180.1:n.1560C>A | ||
| ENST00000680462.1:c.1520C>A | ENSP00000505583.1:p.Thr507Asn | |
| ENST00000680481.1:c.*1143C>A | ENSP00000505919.1:n.*1143C>A | |
| ENST00000680688.1:c.1577C>A | ENSP00000504865.1:p.Thr526Asn | |
| ENST00000681001.1:c.*1372C>A | ENSP00000506145.1:n.*1372C>A | |
| ENST00000681036.1:c.1322C>A | ENSP00000505474.1:p.Thr441Asn | |
| ENST00000681169.1:c.*438C>A | ENSP00000505455.1:n.*438C>A | |
| ENST00000681187.1:n.1560C>A | ||
| ENST00000681492.1:c.1520C>A | ENSP00000506139.1:p.Thr507Asn | |
| ENST00000681541.1:c.1322C>A | ENSP00000506087.1:p.Thr441Asn | |
| ENST00000681557.1:c.*1321C>A | ENSP00000506229.1:n.*1321C>A | |
| ENST00000681738.1:c.1520C>A | ENSP00000505025.1:p.Thr507Asn | |
| ENST00000681779.1:n.1570C>A | ||
| ENST00000681801.1:c.1520C>A | ENSP00000505998.1:p.Thr507Asn | |
| ENST00000681912.1:c.1136C>A | ENSP00000505875.1:p.Thr379Asn | |
| ENST00000367942.3:c.1520C>A | ENSP00000356919.3:p.Thr507Asn | |
| ENST00000476437.1:n.727C>A | ||
| NM_007348.3:c.1520C>A | NP_031374.2:p.Thr507Asn | |
| XM_006711224.1:c.1520C>A | XP_006711287.1:p.Thr507Asn | |
| XM_011509308.1:c.1577C>A | XP_011507610.1:p.Thr526Asn | |
| XM_011509309.1:c.1577C>A | XP_011507611.1:p.Thr526Asn | |
| XM_011509310.1:c.1577C>A | XP_011507612.1:p.Thr526Asn | |
| XM_011509310.2:c.1577C>A | XP_011507612.1:p.Thr526Asn | |
| NM_007348.4:c.1520C>A MANE Select | NP_031374.2:p.Thr507Asn |