Revel Score:
ENST00000340811 (MANE Select)
0.840
ENST00000070846
0.840
ENST00000537278
0.840
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000334 (NFE)
Exomes Max Group AF
0.00003545 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32878134C>T , CM000674.2:g.32878134C>T | GRCh38 |
| NC_000012.11:g.33031068C>T , CM000674.1:g.33031068C>T | GRCh37 |
| NC_000012.10:g.32922335C>T | NCBI36 |
| NG_009000.1:g.23713G>A , LRG_398:g.23713G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700559.2:c.746G>A | ENSP00000515065.2:p.Ser249Asn | |
| ENST00000700563.2:c.746G>A | ENSP00000515066.2:p.Ser249Asn | |
| ENST00000700561.1:n.87G>A | ||
| ENST00000700563.1:c.700G>A | ||
| ENST00000700564.1:n.750G>A | ||
| ENST00000700565.1:n.599G>A | ||
| ENST00000070846.11:c.746G>A | ENSP00000070846.6:p.Ser249Asn | |
| ENST00000340811.9:c.746G>A MANE Select | ENSP00000342800.5:p.Ser249Asn | |
| ENST00000070846.10:c.746G>A | ENSP00000070846.6:p.Ser249Asn | |
| ENST00000340811.8:c.746G>A | ENSP00000342800.4:p.Ser249Asn | |
| ENST00000613243.1:c.746G>A | ENSP00000478295.1:p.Ser249Asn | |
| NM_001005242.2:c.746G>A | NP_001005242.2:p.Ser249Asn | |
| NM_004572.3:c.746G>A , LRG_398t1:c.746G>A | NP_004563.2:p.Ser249Asn | |
| NM_001005242.3:c.746G>A MANE Select | NP_001005242.2:p.Ser249Asn | |
| NM_004572.4:c.746G>A | NP_004563.2:p.Ser249Asn |