dbSNP:
gnomAD v4:
Revel Score:
ENST00000486548
0.266
ENST00000343139 (MANE Select)
0.155
ENST00000395364
0.155
ENST00000395363
0.155
ENST00000496318
0.155
ENST00000374949
0.155
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32641370A>C , CM000668.2:g.32641370A>C | GRCh38 |
| NC_000006.11:g.32609147A>C , CM000668.1:g.32609147A>C | GRCh37 |
| NC_000006.10:g.32717125A>C | NCBI36 |
| NG_032876.1:g.8965A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343139.11:c.143A>C MANE Select | ENSP00000339398.5:p.Tyr48Ser | |
| ENST00000343139.9:c.143A>C | ENSP00000339398.5:p.Tyr48Ser | |
| ENST00000374949.2:c.143A>C | ENSP00000364087.2:p.Tyr48Ser | |
| ENST00000395363.5:c.143A>C | ENSP00000378767.1:p.Tyr48Ser | |
| ENST00000460633.1:n.171A>C | ||
| ENST00000482745.5:c.*975A>C | ENSP00000436546.1:n.*975A>C | |
| ENST00000496318.5:c.143A>C | ENSP00000437302.1:p.Tyr48Ser | |
| NM_002122.3:c.143A>C | NP_002113.2:p.Tyr48Ser | |
| XM_006715079.2:c.143A>C | XP_006715142.1:p.Tyr48Ser | |
| XM_006715079.4:c.143A>C | XP_006715142.1:p.Tyr48Ser | |
| XR_001744085.1:n.87-889T>G | ||
| NM_002122.5:c.143A>C MANE Select | NP_002113.2:p.Tyr48Ser |