Revel Score:
ENST00000539935 (MANE Select)
0.191
ENST00000201943
0.191
ENST00000339254
0.191
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00095904 (MID)
Genomes Max Group AF
0.00054147 (SAS)
Exomes Max Group AF
0.00101964 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.152099004G>A , CM000664.2:g.152099004G>A | GRCh38 |
| NC_000002.11:g.152955518G>A , CM000664.1:g.152955518G>A | GRCh37 |
| NC_000002.10:g.152663764G>A | NCBI36 |
| NG_012641.1:g.5076C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000201943.10:c.8C>T | ENSP00000201943.5:p.Ser3Phe | |
| ENST00000427385.6:c.8C>T | ENSP00000410978.2:p.Ser3Phe | |
| ENST00000470066.2:n.137C>T | ||
| ENST00000539935.7:c.8C>T MANE Select | ENSP00000438949.1:p.Ser3Phe | |
| ENST00000637309.1:c.8C>T | ENSP00000490127.1:p.Ser3Phe | |
| ENST00000201943.9:c.8C>T | ENSP00000201943.5:p.Ser3Phe | |
| ENST00000539935.5:c.8C>T | ENSP00000438949.1:p.Ser3Phe | |
| NM_000726.3:c.8C>T | NP_000717.2:p.Ser3Phe | |
| NM_001145798.1:c.8C>T | NP_001139270.1:p.Ser3Phe | |
| XM_011511797.1:c.8C>T | XP_011510099.1:p.Ser3Phe | |
| XM_011511798.1:c.8C>T | XP_011510100.1:p.Ser3Phe | |
| XM_011511799.1:c.8C>T | XP_011510101.1:p.Ser3Phe | |
| XR_923022.1:n.985C>T | ||
| XR_923023.1:n.985C>T | ||
| NM_000726.4:c.8C>T | NP_000717.2:p.Ser3Phe | |
| NM_001145798.2:c.8C>T | NP_001139270.1:p.Ser3Phe | |
| XM_011511797.3:c.8C>T | XP_011510099.1:p.Ser3Phe | |
| XR_002959337.1:n.161C>T | ||
| XR_923022.3:n.161C>T | ||
| NM_000726.5:c.8C>T MANE Select | NP_000717.2:p.Ser3Phe |