Linked Data
ClinVar Variation Id:
300452
dbSNP Id:
rs142788731
ExAC:
10:73553114 G / A
gnomAD v2:
10-73553114-G-A
gnomAD v3:
10-71793357-G-A
gnomAD v4:
10-71793357-G-A
COSMIC:
COSM3786714
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71793357G>A , CM000672.2:g.71793357G>A | GRCh38 |
| NC_000010.10:g.73553114G>A , CM000672.1:g.73553114G>A | GRCh37 |
| NC_000010.9:g.73223120G>A | NCBI36 |
| NG_008835.1:g.401411G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.6429G>A MANE Select | ENSP00000224721.9:p.Thr2143= | |
| ENST00000224721.10:c.6444G>A | ENSP00000224721.8:p.Thr2148= | |
| ENST00000622827.4:c.6429G>A | ENSP00000483211.1:p.Thr2143= | |
| NM_022124.5:c.6429G>A | NP_071407.4:p.Thr2143= | |
| XM_006717940.2:c.6624G>A | XP_006718003.1:p.Thr2208= | |
| XM_006717942.2:c.6558G>A | XP_006718005.1:p.Thr2186= | |
| XM_011540039.1:c.6621G>A | XP_011538341.1:p.Thr2207= | |
| XM_011540040.1:c.6618G>A | XP_011538342.1:p.Thr2206= | |
| XM_011540041.1:c.6564G>A | XP_011538343.1:p.Thr2188= | |
| XM_011540042.1:c.6578-44G>A | XP_011538344.1:n.6578-44G>A | |
| XM_011540043.1:c.6624G>A | XP_011538345.1:p.Thr2208= | |
| XM_011540044.1:c.6489G>A | XP_011538346.1:p.Thr2163= | |
| XM_011540045.1:c.6624G>A | XP_011538347.1:p.Thr2208= | |
| XM_011540046.1:c.6084G>A | XP_011538348.1:p.Thr2028= | |
| XM_011540047.1:c.5442G>A | XP_011538349.1:p.Thr1814= | |
| XM_011540048.1:c.6624G>A | XP_011538350.1:p.Thr2208= | |
| XM_011540049.1:c.6624G>A | XP_011538351.1:p.Thr2208= | |
| XM_011540050.1:c.6624G>A | XP_011538352.1:p.Thr2208= | |
| XM_011540051.1:c.6624G>A | XP_011538353.1:p.Thr2208= | |
| XM_011540052.1:c.2952G>A | XP_011538354.1:p.Thr984= | |
| XR_945796.1:n.6867G>A | ||
| NM_022124.6:c.6429G>A MANE Select | NP_071407.4:p.Thr2143= |