Linked Data
ClinVar Variation Id:
2052001
ClinVar RCV Id:
RCV002932394
dbSNP Id:
rs1025578873
gnomAD v2:
3-179137255-C-T
gnomAD v3:
3-179419467-C-T
gnomAD v4:
3-179419467-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179419467C>T , CM000665.2:g.179419467C>T | GRCh38 |
| NC_000003.11:g.179137255C>T , CM000665.1:g.179137255C>T | GRCh37 |
| NC_000003.10:g.180619949C>T | NCBI36 |
| NG_033163.1:g.37117G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232564.8:c.135G>A MANE Select | ENSP00000232564.3:p.Met45Ile | |
| ENST00000465153.2:c.135G>A | ENSP00000502010.1:p.Met45Ile | |
| ENST00000466899.6:c.135G>A | ENSP00000420066.2:p.Met45Ile | |
| ENST00000468623.6:c.96G>A | ENSP00000419693.2:p.Met32Ile | |
| ENST00000674713.1:c.27G>A | ENSP00000502144.1:p.Met9Ile | |
| ENST00000674862.1:c.135G>A | ENSP00000502628.1:p.Met45Ile | |
| ENST00000674927.1:c.135G>A | ENSP00000501774.1:p.Met45Ile | |
| ENST00000675901.1:c.135G>A | ENSP00000501992.1:p.Met45Ile | |
| ENST00000676128.1:c.135G>A | ENSP00000501882.1:p.Met45Ile | |
| ENST00000232564.7:c.135G>A | ENSP00000232564.3:p.Met45Ile | |
| ENST00000468623.5:c.135G>A | ENSP00000419693.1:p.Met45Ile | |
| ENST00000497513.1:c.135G>A | ENSP00000420606.1:p.Met45Ile | |
| NM_021629.3:c.135G>A | NP_067642.1:p.Met45Ile | |
| XM_005247692.1:c.135G>A | XP_005247749.1:p.Met45Ile | |
| XM_006713721.1:c.135G>A | XP_006713784.1:p.Met45Ile | |
| XM_011513061.1:c.135G>A | XP_011511363.1:p.Met45Ile | |
| XM_005247692.2:c.135G>A | XP_005247749.1:p.Met45Ile | |
| XM_006713721.2:c.135G>A | XP_006713784.1:p.Met45Ile | |
| NM_021629.4:c.135G>A MANE Select | NP_067642.1:p.Met45Ile |