Linked Data
dbSNP Id:
rs370928738
ExAC:
3:148711935 C / A
gnomAD v2:
3-148711935-C-A
gnomAD v4:
3-148994148-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.148994148C>A , CM000665.2:g.148994148C>A | GRCh38 |
| NC_000003.11:g.148711935C>A , CM000665.1:g.148711935C>A | GRCh37 |
| NC_000003.10:g.150194625C>A | NCBI36 |
| NG_027677.1:g.7741C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000345003.9:c.14C>A MANE Select | ENSP00000340736.4:p.Ala5Asp | |
| ENST00000296048.10:c.14C>A | ENSP00000296048.6:p.Ala5Asp | |
| ENST00000345003.8:c.14C>A | ENSP00000340736.4:p.Ala5Asp | |
| ENST00000461191.1:c.14C>A | ENSP00000420247.1:p.Ala5Asp | |
| ENST00000473005.1:c.-125C>A | ENSP00000417671.1:n.-125C>A | |
| ENST00000478067.1:n.115C>A | ||
| ENST00000483267.5:c.14C>A | ENSP00000419499.1:p.Ala5Asp | |
| ENST00000484197.5:c.14C>A | ENSP00000420683.1:p.Ala5Asp | |
| ENST00000492285.6:c.-125C>A | ENSP00000418297.2:n.-125C>A | |
| ENST00000627418.2:c.14C>A | ENSP00000486061.1:p.Ala5Asp | |
| NM_001184720.1:c.14C>A | NP_001171649.1:p.Ala5Asp | |
| NM_001184721.1:c.14C>A | NP_001171650.1:p.Ala5Asp | |
| NM_004130.3:c.14C>A | NP_004121.2:p.Ala5Asp | |
| XM_017006275.1:c.-34-2154C>A | XP_016861764.1:n.-34-2154C>A | |
| NM_004130.4:c.14C>A MANE Select | NP_004121.2:p.Ala5Asp | |
| NM_001184720.2:c.14C>A | NP_001171649.1:p.Ala5Asp | |
| NM_001184721.2:c.14C>A | NP_001171650.1:p.Ala5Asp |