Linked Data
ClinVar Variation Id:
2967800
ClinVar RCV Id:
RCV003826462
dbSNP Id:
rs776395124
ExAC:
3:58502962 T / C
gnomAD v2:
3-58502962-T-C
gnomAD v4:
3-58517235-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58517235T>C , CM000665.2:g.58517235T>C | GRCh38 |
| NC_000003.11:g.58502962T>C , CM000665.1:g.58502962T>C | GRCh37 |
| NC_000003.10:g.58478002T>C | NCBI36 |
| NG_052668.1:g.24968A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302819.10:c.1821A>G MANE Select | ENSP00000307697.5:p.Thr607= | |
| ENST00000302819.9:c.1821A>G | ENSP00000307697.5:p.Thr607= | |
| ENST00000459701.6:c.1779A>G | ENSP00000418562.2:p.Thr593= | |
| ENST00000460921.1:c.153A>G | ENSP00000417877.1:p.Thr51= | |
| ENST00000467738.1:n.759A>G | ||
| ENST00000481527.5:n.329A>G | ||
| NM_003500.3:c.1821A>G | NP_003491.1:p.Thr607= | |
| XM_005265505.1:c.1821A>G | XP_005265562.1:p.Thr607= | |
| XM_005265506.2:c.1611A>G | XP_005265563.1:p.Thr537= | |
| XM_006713340.2:c.1527A>G | XP_006713403.1:p.Thr509= | |
| XM_011534147.1:c.1986A>G | XP_011532449.1:p.Thr662= | |
| XM_011534148.1:c.1527A>G | XP_011532450.1:p.Thr509= | |
| XM_006713340.3:c.1527A>G | XP_006713403.1:p.Thr509= | |
| XM_017007302.2:c.1611A>G | XP_016862791.1:p.Thr537= | |
| XM_024453786.1:c.1611A>G | XP_024309554.1:p.Thr537= | |
| NM_003500.4:c.1821A>G MANE Select | NP_003491.1:p.Thr607= |