dbSNP:
gnomAD v2:
gnomAD v4:
Revel Score:
ENST00000297784 (MANE Select)
0.120
ENST00000340019
0.120
ENST00000396235
0.120
ENST00000537917
0.120
ENST00000538054
0.120
ENST00000542143
0.120
ENST00000396237
0.120
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72694619T>G , CM000671.2:g.72694619T>G | GRCh38 |
| NC_000009.11:g.75309535T>G , CM000671.1:g.75309535T>G | GRCh37 |
| NC_000009.10:g.74499355T>G | NCBI36 |
| NG_008213.1:g.177819T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.141T>G MANE Select | ENSP00000297784.6:p.Asp47Glu | |
| ENST00000644967.1:c.-172T>G | ENSP00000496159.1:n.-172T>G | |
| ENST00000645053.1:c.-172T>G | ENSP00000493838.1:n.-172T>G | |
| ENST00000645208.2:c.141T>G | ENSP00000494684.1:p.Asp47Glu | |
| ENST00000645773.1:c.141T>G | ENSP00000493698.1:p.Asp47Glu | |
| ENST00000645787.1:n.181T>G | ||
| ENST00000646244.1:n.591T>G | ||
| ENST00000646619.1:c.-172T>G | ENSP00000493726.1:n.-172T>G | |
| ENST00000650689.1:n.565T>G | ||
| ENST00000651183.1:c.-172T>G | ENSP00000498723.1:n.-172T>G | |
| ENST00000297784.9:c.141T>G | ENSP00000297784.5:p.Asp47Glu | |
| ENST00000340019.4:c.141T>G | ENSP00000341433.3:p.Asp47Glu | |
| NM_138691.2:c.141T>G | NP_619636.2:p.Asp47Glu | |
| XM_011518213.1:c.729T>G | XP_011516515.1:p.Asp243Glu | |
| XM_017014256.1:c.144T>G | XP_016869745.1:p.Asp48Glu | |
| NM_138691.3:c.141T>G MANE Select | NP_619636.2:p.Asp47Glu |