dbSNP:
gnomAD v3:
gnomAD v4:
Revel Score:
ENST00000422863
0.109
ENST00000343139 (MANE Select)
0.109
ENST00000395364
0.109
ENST00000395363
0.109
ENST00000496318
0.109
ENST00000374949
0.109
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32637489G>T , CM000668.2:g.32637489G>T | GRCh38 |
| NC_000006.11:g.32605266G>T , CM000668.1:g.32605266G>T | GRCh37 |
| NC_000006.10:g.32713244G>T | NCBI36 |
| NG_032876.1:g.5084G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343139.11:c.31G>T MANE Select | ENSP00000339398.5:p.Ala11Ser | |
| ENST00000343139.9:c.31G>T | ENSP00000339398.5:p.Ala11Ser | |
| ENST00000374949.2:c.31G>T | ENSP00000364087.2:p.Ala11Ser | |
| ENST00000395363.5:c.31G>T | ENSP00000378767.1:p.Ala11Ser | |
| ENST00000422863.1:c.31G>T | ENSP00000405797.1:p.Ala11Ser | |
| ENST00000460633.1:n.59G>T | ||
| ENST00000482745.5:c.31G>T | ENSP00000436546.1:p.Ala11Ser | |
| ENST00000496318.5:c.31G>T | ENSP00000437302.1:p.Ala11Ser | |
| NM_002122.3:c.31G>T | NP_002113.2:p.Ala11Ser | |
| XM_006715079.2:c.31G>T | XP_006715142.1:p.Ala11Ser | |
| XM_006715079.4:c.31G>T | XP_006715142.1:p.Ala11Ser | |
| XR_001744085.1:n.3079C>A | ||
| NM_002122.5:c.31G>T MANE Select | NP_002113.2:p.Ala11Ser |