Linked Data
ClinVar Variation Id:
382071
ClinVar RCV Id:
RCV001516244
dbSNP Id:
rs114156848
ExAC:
3:148714517 C / T
gnomAD v2:
3-148714517-C-T
gnomAD v3:
3-148996730-C-T
gnomAD v4:
3-148996730-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.148996730C>T , CM000665.2:g.148996730C>T | GRCh38 |
| NC_000003.11:g.148714517C>T , CM000665.1:g.148714517C>T | GRCh37 |
| NC_000003.10:g.150197207C>T | NCBI36 |
| NG_027677.1:g.10323C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000345003.9:c.319-12C>T MANE Select | ENSP00000340736.4:n.319-12C>T | |
| ENST00000296048.10:c.319-12C>T | ENSP00000296048.6:n.319-12C>T | |
| ENST00000345003.8:c.319-12C>T | ENSP00000340736.4:n.319-12C>T | |
| ENST00000461191.1:c.319-12C>T | ENSP00000420247.1:n.319-12C>T | |
| ENST00000465547.1:n.212-12C>T | ||
| ENST00000478067.1:n.371-12C>T | ||
| ENST00000483267.5:c.319-12C>T | ENSP00000419499.1:n.319-12C>T | |
| ENST00000484197.5:c.319-12C>T | ENSP00000420683.1:n.319-12C>T | |
| ENST00000492285.6:c.181-12C>T | ENSP00000418297.2:n.181-12C>T | |
| ENST00000627418.2:c.319-12C>T | ENSP00000486061.1:n.319-12C>T | |
| NM_001184720.1:c.319-12C>T | NP_001171649.1:n.319-12C>T | |
| NM_001184721.1:c.319-12C>T | NP_001171650.1:n.319-12C>T | |
| NM_004130.3:c.319-12C>T | NP_004121.2:n.319-12C>T | |
| XM_017006275.1:c.142-12C>T | XP_016861764.1:n.142-12C>T | |
| NM_004130.4:c.319-12C>T MANE Select | NP_004121.2:n.319-12C>T | |
| NM_001184720.2:c.319-12C>T | NP_001171649.1:n.319-12C>T | |
| NM_001184721.2:c.319-12C>T | NP_001171650.1:n.319-12C>T |