Linked Data
ClinVar Variation Id:
3221320
ClinVar RCV Id:
RCV004508171
dbSNP Id:
rs530455380
ExAC:
2:203383726 C / G
gnomAD v2:
2-203383726-C-G
gnomAD v3:
2-202519003-C-G
gnomAD v4:
2-202519003-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202519003C>G , CM000664.2:g.202519003C>G | GRCh38 |
| NC_000002.11:g.203383726C>G , CM000664.1:g.203383726C>G | GRCh37 |
| NC_000002.10:g.203091971C>G | NCBI36 |
| NG_009363.1:g.147677C>G , LRG_712:g.147677C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.803C>G MANE Select | ENSP00000363708.4:p.Thr268Ser | |
| ENST00000638587.1:c.734C>G | ENSP00000491062.1:p.Thr245Ser | |
| ENST00000374574.2:c.803C>G | ENSP00000363702.2:p.Thr268Ser | |
| ENST00000374580.8:c.803C>G | ENSP00000363708.4:p.Thr268Ser | |
| NM_001204.6:c.803C>G , LRG_712t1:c.803C>G | NP_001195.2:p.Thr268Ser | |
| XM_011511687.1:c.803C>G | XP_011509989.1:p.Thr268Ser | |
| XM_011511688.1:c.803C>G | XP_011509990.1:p.Thr268Ser | |
| NM_001204.7:c.803C>G MANE Select | NP_001195.2:p.Thr268Ser |