Linked Data
dbSNP Id:
rs536350054
ExAC:
9:75315440 A / C
gnomAD v2:
9-75315440-A-C
gnomAD v3:
9-72700524-A-C
gnomAD v4:
9-72700524-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72700524A>C , CM000671.2:g.72700524A>C | GRCh38 |
| NC_000009.11:g.75315440A>C , CM000671.1:g.75315440A>C | GRCh37 |
| NC_000009.10:g.74505260A>C | NCBI36 |
| NG_008213.1:g.183724A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.243A>C MANE Select | ENSP00000297784.6:p.Glu81Asp | |
| ENST00000644967.1:c.-77+5810A>C | ENSP00000496159.1:n.-77+5810A>C | |
| ENST00000645053.1:c.-77+5810A>C | ENSP00000493838.1:n.-77+5810A>C | |
| ENST00000645208.2:c.243A>C | ENSP00000494684.1:p.Glu81Asp | |
| ENST00000645773.1:c.236+5810A>C | ENSP00000493698.1:n.236+5810A>C | |
| ENST00000645787.1:n.283A>C | ||
| ENST00000646244.1:n.693A>C | ||
| ENST00000646619.1:c.-77+5810A>C | ENSP00000493726.1:n.-77+5810A>C | |
| ENST00000650689.1:n.660+5810A>C | ||
| ENST00000651183.1:c.-77+5810A>C | ENSP00000498723.1:n.-77+5810A>C | |
| ENST00000297784.9:c.243A>C | ENSP00000297784.5:p.Glu81Asp | |
| ENST00000340019.4:c.243A>C | ENSP00000341433.3:p.Glu81Asp | |
| NM_138691.2:c.243A>C | NP_619636.2:p.Glu81Asp | |
| XM_011518213.1:c.831A>C | XP_011516515.1:p.Glu277Asp | |
| XM_017014256.1:c.246A>C | XP_016869745.1:p.Glu82Asp | |
| NM_138691.3:c.243A>C MANE Select | NP_619636.2:p.Glu81Asp |