Revel Score:
ENST00000261883 (MANE Select)
0.128
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00437686 (NFE)
Genomes Max Group AF
0.00374664 (NFE)
Exomes Max Group AF
0.00439387 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65197542T>G , CM000677.2:g.65197542T>G | GRCh38 |
| NC_000015.9:g.65489880T>G , CM000677.1:g.65489880T>G | GRCh37 |
| NC_000015.8:g.63276933T>G | NCBI36 |
| NG_012214.1:g.18961A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261883.6:c.2744A>C MANE Select | ENSP00000261883.4:p.Tyr915Ser | |
| ENST00000261883.5:c.2744A>C | ENSP00000261883.4:p.Tyr915Ser | |
| NM_003613.3:c.2744A>C | NP_003604.3:p.Tyr915Ser | |
| XM_017022678.2:c.2825A>C | XP_016878167.1:p.Tyr942Ser | |
| XM_017022679.1:c.2672A>C | XP_016878168.1:p.Tyr891Ser | |
| NM_003613.4:c.2744A>C MANE Select | NP_003604.4:p.Tyr915Ser |