Linked Data
ClinVar Variation Id:
381418
ClinVar RCV Id:
RCV001520789
dbSNP Id:
rs61733452
ExAC:
3:148712035 C / T
gnomAD v2:
3-148712035-C-T
gnomAD v3:
3-148994248-C-T
gnomAD v4:
3-148994248-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.148994248C>T , CM000665.2:g.148994248C>T | GRCh38 |
| NC_000003.11:g.148712035C>T , CM000665.1:g.148712035C>T | GRCh37 |
| NC_000003.10:g.150194725C>T | NCBI36 |
| NG_027677.1:g.7841C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000345003.9:c.114C>T MANE Select | ENSP00000340736.4:p.Leu38= | |
| ENST00000296048.10:c.114C>T | ENSP00000296048.6:p.Leu38= | |
| ENST00000345003.8:c.114C>T | ENSP00000340736.4:p.Leu38= | |
| ENST00000461191.1:c.114C>T | ENSP00000420247.1:p.Leu38= | |
| ENST00000465547.1:n.37C>T | ||
| ENST00000473005.1:c.-25C>T | ENSP00000417671.1:n.-25C>T | |
| ENST00000478067.1:n.215C>T | ||
| ENST00000483267.5:c.114C>T | ENSP00000419499.1:p.Leu38= | |
| ENST00000484197.5:c.114C>T | ENSP00000420683.1:p.Leu38= | |
| ENST00000492285.6:c.-25C>T | ENSP00000418297.2:n.-25C>T | |
| ENST00000627418.2:c.114C>T | ENSP00000486061.1:p.Leu38= | |
| NM_001184720.1:c.114C>T | NP_001171649.1:p.Leu38= | |
| NM_001184721.1:c.114C>T | NP_001171650.1:p.Leu38= | |
| NM_004130.3:c.114C>T | NP_004121.2:p.Leu38= | |
| XM_017006275.1:c.-34-2054C>T | XP_016861764.1:n.-34-2054C>T | |
| NM_004130.4:c.114C>T MANE Select | NP_004121.2:p.Leu38= | |
| NM_001184720.2:c.114C>T | NP_001171649.1:p.Leu38= | |
| NM_001184721.2:c.114C>T | NP_001171650.1:p.Leu38= |