Revel Score:
ENST00000302823
0.006
ENST00000541886
0.006
ENST00000295854
0.006
ENST00000472206
0.006
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203867991A>T , CM000664.2:g.203867991A>T | GRCh38 |
| NC_000002.11:g.204732714A>T , CM000664.1:g.204732714A>T | GRCh37 |
| NC_000002.10:g.204440959A>T | NCBI36 |
| NG_011502.1:g.5206A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696049.1:c.49A>T | ENSP00000512353.1:p.Thr17Ser | |
| ENST00000696479.1:c.121A>T | ENSP00000512655.1:p.Thr41Ser | |
| ENST00000648405.2:c.49A>T MANE Select | ENSP00000497102.1:p.Thr17Ser | |
| ENST00000295854.10:c.49A>T | ENSP00000295854.6:p.Thr17Ser | |
| ENST00000302823.7:c.49A>T | ENSP00000303939.3:p.Thr17Ser | |
| ENST00000472206.1:c.49A>T | ENSP00000417779.1:p.Thr17Ser | |
| ENST00000487393.1:n.49A>T | ||
| NM_001037631.2:c.49A>T | NP_001032720.1:p.Thr17Ser | |
| NM_005214.4:c.49A>T | NP_005205.2:p.Thr17Ser | |
| XR_241294.1:n.189A>T | ||
| NM_001037631.3:c.49A>T | NP_001032720.1:p.Thr17Ser | |
| NM_005214.5:c.49A>T MANE Select | NP_005205.2:p.Thr17Ser |