Linked Data
ClinVar Variation Id:
790538
ClinVar RCV Id:
RCV000973341
dbSNP Id:
rs114465932
ExAC:
3:58517084 A / G
gnomAD v2:
3-58517084-A-G
gnomAD v3:
3-58531357-A-G
gnomAD v4:
3-58531357-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58531357A>G , CM000665.2:g.58531357A>G | GRCh38 |
| NC_000003.11:g.58517084A>G , CM000665.1:g.58517084A>G | GRCh37 |
| NC_000003.10:g.58492124A>G | NCBI36 |
| NG_052668.1:g.10846T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302819.10:c.713T>C MANE Select | ENSP00000307697.5:p.Ile238Thr | |
| ENST00000302819.9:c.713T>C | ENSP00000307697.5:p.Ile238Thr | |
| ENST00000459701.6:c.713T>C | ENSP00000418562.2:p.Ile238Thr | |
| ENST00000466810.5:n.511T>C | ||
| ENST00000489472.1:c.265T>C | ENSP00000418515.1:p.Leu89= | |
| ENST00000492530.1:c.542T>C | ||
| NM_003500.3:c.713T>C | NP_003491.1:p.Ile238Thr | |
| XM_005265505.1:c.713T>C | XP_005265562.1:p.Ile238Thr | |
| XM_005265506.2:c.503T>C | XP_005265563.1:p.Ile168Thr | |
| XM_006713340.2:c.419T>C | XP_006713403.1:p.Ile140Thr | |
| XM_011534147.1:c.878T>C | XP_011532449.1:p.Ile293Thr | |
| XM_011534148.1:c.419T>C | XP_011532450.1:p.Ile140Thr | |
| XM_006713340.3:c.419T>C | XP_006713403.1:p.Ile140Thr | |
| XM_017007302.2:c.503T>C | XP_016862791.1:p.Ile168Thr | |
| XM_024453786.1:c.503T>C | XP_024309554.1:p.Ile168Thr | |
| NM_003500.4:c.713T>C MANE Select | NP_003491.1:p.Ile238Thr |