Linked Data
ClinVar Variation Id:
1337847
ClinVar RCV Id:
RCV001822445
dbSNP Id:
rs535755807
ExAC:
7:66458277 G / C
gnomAD v2:
7-66458277-G-C
gnomAD v3:
7-66993290-G-C
gnomAD v4:
7-66993290-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66993290G>C , CM000669.2:g.66993290G>C | GRCh38 |
| NC_000007.13:g.66458277G>C , CM000669.1:g.66458277G>C | GRCh37 |
| NC_000007.12:g.66095712G>C | NCBI36 |
| NG_007277.1:g.7312C>G , LRG_104:g.7312C>G | |
| NG_033069.1:g.1486G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000414306.6:c.*117C>G | ENSP00000394586.1:n.*117C>G | |
| ENST00000697860.1:n.353C>G | ||
| ENST00000697861.1:c.258+922C>G | ENSP00000513460.1:n.258+922C>G | |
| ENST00000697862.1:c.386C>G | ENSP00000513461.1:p.Thr129Ser | |
| ENST00000697863.1:c.329C>G | ENSP00000513462.1:p.Thr110Ser | |
| ENST00000697864.1:n.1530C>G | ||
| ENST00000697865.1:c.329C>G | ENSP00000513463.1:p.Thr110Ser | |
| ENST00000697866.1:c.68C>G | ENSP00000513464.1:p.Thr23Ser | |
| ENST00000697867.1:c.226C>G | ||
| ENST00000697868.1:c.*150C>G | ENSP00000513466.1:n.*150C>G | |
| ENST00000697869.1:c.*121C>G | ENSP00000513467.1:n.*121C>G | |
| ENST00000697897.1:c.386C>G | ENSP00000513469.1:p.Thr129Ser | |
| ENST00000246868.7:c.386C>G MANE Select | ENSP00000246868.2:p.Thr129Ser | |
| ENST00000246868.6:c.386C>G | ENSP00000246868.2:p.Thr129Ser | |
| ENST00000414306.5:c.*117C>G | ENSP00000394586.1:n.*117C>G | |
| ENST00000463579.1:n.275C>G | ||
| ENST00000490953.5:n.527C>G | ||
| ENST00000617799.1:c.386C>G | ENSP00000483040.1:p.Thr129Ser | |
| NM_016038.2:c.386C>G , LRG_104t1:c.386C>G | NP_057122.2:p.Thr129Ser | |
| NM_016038.3:c.386C>G | NP_057122.2:p.Thr129Ser | |
| NM_016038.4:c.386C>G MANE Select | NP_057122.2:p.Thr129Ser |