Linked Data
ClinVar Variation Id:
382382
ClinVar RCV Id:
RCV000438555
dbSNP Id:
rs773549163
ExAC:
7:141255287 G / A
gnomAD v2:
7-141255287-G-A
gnomAD v3:
7-141555487-G-A
gnomAD v4:
7-141555487-G-A
COSMIC:
COSM1238149
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.141555487G>A , CM000669.2:g.141555487G>A | GRCh38 |
| NC_000007.13:g.141255287G>A , CM000669.1:g.141255287G>A | GRCh37 |
| NC_000007.12:g.140901756G>A | NCBI36 |
| NG_032079.1:g.9210G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647568.1:c.21G>A | ENSP00000497039.1:p.Thr7= | |
| ENST00000648068.1:c.21G>A | ENSP00000498112.1:p.Thr7= | |
| ENST00000648395.1:c.-176+3988G>A | ENSP00000497666.1:n.-176+3988G>A | |
| ENST00000648489.1:n.52G>A | ||
| ENST00000648690.1:c.-176+4053G>A | ENSP00000497945.1:n.-176+4053G>A | |
| ENST00000649014.1:c.21G>A | ENSP00000497984.1:p.Thr7= | |
| ENST00000649286.2:c.21G>A MANE Select | ENSP00000497280.1:p.Thr7= | |
| ENST00000649365.1:c.21G>A | ENSP00000496835.1:p.Thr7= | |
| ENST00000649538.1:n.49G>A | ||
| ENST00000649790.1:c.-176+4053G>A | ENSP00000498193.1:n.-176+4053G>A | |
| ENST00000649914.1:c.-206G>A | ENSP00000497848.1:n.-206G>A | |
| ENST00000650006.1:c.21G>A | ENSP00000497457.1:p.Thr7= | |
| ENST00000650365.1:c.21G>A | ENSP00000497358.1:p.Thr7= | |
| ENST00000650547.1:c.21G>A | ENSP00000496789.1:p.Thr7= | |
| ENST00000355413.8:c.21G>A | ENSP00000347581.4:p.Thr7= | |
| ENST00000465241.5:n.32G>A | ||
| ENST00000473247.5:c.-68G>A | ENSP00000420776.1:n.-68G>A | |
| ENST00000473884.5:c.21G>A | ENSP00000420540.1:p.Thr7= | |
| ENST00000492693.5:c.21G>A | ENSP00000418789.1:p.Thr7= | |
| ENST00000494688.1:c.21G>A | ENSP00000418101.1:p.Thr7= | |
| ENST00000495028.5:n.60G>A | ||
| ENST00000496784.1:n.22G>A | ||
| ENST00000629555.2:c.21G>A | ENSP00000487274.1:p.Thr7= | |
| NM_018238.3:c.21G>A | NP_060708.1:p.Thr7= | |
| XM_005250023.3:c.21G>A | XP_005250080.1:p.Thr7= | |
| XM_011516397.1:c.21G>A | XP_011514699.1:p.Thr7= | |
| NM_001364948.1:c.21G>A | NP_001351877.1:p.Thr7= | |
| NM_018238.4:c.21G>A MANE Select | NP_060708.1:p.Thr7= | |
| XM_011516397.3:c.21G>A | XP_011514699.1:p.Thr7= | |
| XM_024446835.1:c.21G>A | XP_024302603.1:p.Thr7= | |
| NM_001364948.2:c.21G>A | NP_001351877.1:p.Thr7= | |
| NM_001364948.3:c.21G>A | NP_001351877.1:p.Thr7= |