Linked Data
ClinVar Variation Id:
283832
dbSNP Id:
rs55849640
ExAC:
2:56145171 T / G
gnomAD v2:
2-56145171-T-G
gnomAD v3:
2-55918036-T-G
gnomAD v4:
2-55918036-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.55918036T>G , CM000664.2:g.55918036T>G | GRCh38 |
| NC_000002.11:g.56145171T>G , CM000664.1:g.56145171T>G | GRCh37 |
| NC_000002.10:g.55998675T>G | NCBI36 |
| NG_009098.1:g.10762A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355426.8:c.146A>C MANE Select | ENSP00000347596.3:p.Asp49Ala | |
| ENST00000355426.7:c.146A>C | ENSP00000347596.3:p.Asp49Ala | |
| ENST00000394555.6:c.146A>C | ENSP00000378058.2:p.Asp49Ala | |
| ENST00000421664.1:c.146A>C | ENSP00000405686.1:p.Asp49Ala | |
| ENST00000429909.5:c.146A>C | ENSP00000389319.1:p.Asp49Ala | |
| ENST00000438672.5:c.146A>C | ENSP00000392055.1:p.Asp49Ala | |
| ENST00000439193.5:c.146A>C | ENSP00000408195.1:p.Asp49Ala | |
| ENST00000440439.5:c.146A>C | ENSP00000398345.1:p.Asp49Ala | |
| ENST00000452161.5:n.252A>C | ||
| ENST00000452337.5:c.146A>C | ENSP00000399480.1:p.Asp49Ala | |
| ENST00000635671.1:c.*38A>C | ENSP00000489578.1:n.*38A>C | |
| NM_001039348.2:c.146A>C | NP_001034437.1:p.Asp49Ala | |
| NM_001039349.2:c.146A>C | NP_001034438.1:p.Asp49Ala | |
| XM_005264205.3:c.536A>C | XP_005264262.1:p.Asp179Ala | |
| XM_005264205.4:c.536A>C | XP_005264262.1:p.Asp179Ala | |
| XM_017003586.2:c.146A>C | XP_016859075.1:p.Asp49Ala | |
| XM_024452755.1:c.146A>C | XP_024308523.1:p.Asp49Ala | |
| XM_024452756.1:c.146A>C | XP_024308524.1:p.Asp49Ala | |
| XM_024452757.1:c.146A>C | XP_024308525.1:p.Asp49Ala | |
| NM_001039348.3:c.146A>C MANE Select | NP_001034437.1:p.Asp49Ala | |
| NM_001039349.3:c.146A>C | NP_001034438.1:p.Asp49Ala |