Linked Data
ClinVar Variation Id:
3069491
ClinVar RCV Id:
RCV004008035
dbSNP Id:
rs1287313743
gnomAD v2:
12-33031869-G-C
gnomAD v4:
12-32878935-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32878935G>C , CM000674.2:g.32878935G>C | GRCh38 |
| NC_000012.11:g.33031869G>C , CM000674.1:g.33031869G>C | GRCh37 |
| NC_000012.10:g.32923136G>C | NCBI36 |
| NG_009000.1:g.22912C>G , LRG_398:g.22912C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700559.2:c.321C>G | ENSP00000515065.2:p.Thr107= | |
| ENST00000700563.2:c.321C>G | ENSP00000515066.2:p.Thr107= | |
| ENST00000700563.1:c.275C>G | ||
| ENST00000700564.1:n.325C>G | ||
| ENST00000700565.1:n.174C>G | ||
| ENST00000070846.11:c.321C>G | ENSP00000070846.6:p.Thr107= | |
| ENST00000340811.9:c.321C>G MANE Select | ENSP00000342800.5:p.Thr107= | |
| ENST00000070846.10:c.321C>G | ENSP00000070846.6:p.Thr107= | |
| ENST00000340811.8:c.321C>G | ENSP00000342800.4:p.Thr107= | |
| ENST00000613243.1:c.321C>G | ENSP00000478295.1:p.Thr107= | |
| NM_001005242.2:c.321C>G | NP_001005242.2:p.Thr107= | |
| NM_004572.3:c.321C>G , LRG_398t1:c.321C>G | NP_004563.2:p.Thr107= | |
| NM_001005242.3:c.321C>G MANE Select | NP_001005242.2:p.Thr107= | |
| NM_004572.4:c.321C>G | NP_004563.2:p.Thr107= |