Linked Data
ClinVar Variation Id:
2186267
ClinVar RCV Id:
RCV002606507
dbSNP Id:
rs750396146
ExAC:
3:148714639 T / C
gnomAD v2:
3-148714639-T-C
gnomAD v3:
3-148996852-T-C
gnomAD v4:
3-148996852-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.148996852T>C , CM000665.2:g.148996852T>C | GRCh38 |
| NC_000003.11:g.148714639T>C , CM000665.1:g.148714639T>C | GRCh37 |
| NC_000003.10:g.150197329T>C | NCBI36 |
| NG_027677.1:g.10445T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345003.9:c.429T>C MANE Select | ENSP00000340736.4:p.Val143= | |
| ENST00000296048.10:c.429T>C | ENSP00000296048.6:p.Val143= | |
| ENST00000345003.8:c.429T>C | ENSP00000340736.4:p.Val143= | |
| ENST00000461191.1:c.429T>C | ENSP00000420247.1:p.Val143= | |
| ENST00000483267.5:c.429T>C | ENSP00000419499.1:p.Val143= | |
| ENST00000484197.5:c.429T>C | ENSP00000420683.1:p.Val143= | |
| ENST00000492285.6:c.291T>C | ENSP00000418297.2:p.Val97= | |
| ENST00000497528.5:n.22T>C | ||
| ENST00000627418.2:c.429T>C | ENSP00000486061.1:p.Val143= | |
| NM_001184720.1:c.429T>C | NP_001171649.1:p.Val143= | |
| NM_001184721.1:c.429T>C | NP_001171650.1:p.Val143= | |
| NM_004130.3:c.429T>C | NP_004121.2:p.Val143= | |
| XM_017006275.1:c.252T>C | XP_016861764.1:p.Val84= | |
| NM_004130.4:c.429T>C MANE Select | NP_004121.2:p.Val143= | |
| NM_001184720.2:c.429T>C | NP_001171649.1:p.Val143= | |
| NM_001184721.2:c.429T>C | NP_001171650.1:p.Val143= |