ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.55021121T>A , CM000685.2:g.55021121T>A | GRCh38 |
| NC_000023.10:g.55047554T>A , CM000685.1:g.55047554T>A | GRCh37 |
| NC_000023.9:g.55064279T>A | NCBI36 |
| NG_008983.1:g.14944A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455688.2:c.353A>T | ENSP00000407204.2:p.Asp118Val | |
| ENST00000477869.6:c.242A>T | ENSP00000496725.1:p.Asp81Val | |
| ENST00000493869.2:c.305-617A>T | ENSP00000495713.1:n.305-617A>T | |
| ENST00000650242.1:c.569A>T MANE Select | ENSP00000497236.1:p.Asp190Val | |
| ENST00000330807.9:c.569A>T | ENSP00000332369.5:p.Asp190Val | |
| ENST00000335854.8:c.458A>T | ENSP00000337131.4:p.Asp153Val | |
| ENST00000396198.7:c.530A>T | ENSP00000379501.3:p.Asp177Val | |
| ENST00000455688.1:c.424A>T | ||
| ENST00000463868.5:n.356-617A>T | ||
| ENST00000477869.5:n.313A>T | ||
| ENST00000493869.1:n.509A>T | ||
| NM_000032.4:c.569A>T | NP_000023.2:p.Asp190Val | |
| NM_001037967.3:c.458A>T | NP_001033056.1:p.Asp153Val | |
| NM_001037968.3:c.530A>T | NP_001033057.1:p.Asp177Val | |
| XM_005261995.2:c.641A>T | XP_005262052.1:p.Asp214Val | |
| XM_011530771.1:c.-223-617A>T | XP_011529073.1:n.-223-617A>T | |
| NM_000032.5:c.569A>T MANE Select | NP_000023.2:p.Asp190Val | |
| NM_001037967.4:c.458A>T | NP_001033056.1:p.Asp153Val | |
| NM_001037968.4:c.530A>T | NP_001033057.1:p.Asp177Val |