COSMIC:
COSM4984995 (not active)
Revel Score:
ENST00000263642
0.036
ENST00000543192
0.036
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.60756722 (NFE)
Genomes Max Group AF
0.60460664 (NFE)
Exomes Max Group AF
0.60748383 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162267541C>T , CM000664.2:g.162267541C>T | GRCh38 |
| NC_000002.11:g.163124051C>T , CM000664.1:g.163124051C>T | GRCh37 |
| NC_000002.10:g.162832297C>T | NCBI36 |
| NG_011495.1:g.55989G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697291.1:c.*2433G>A | ENSP00000513228.1:n.*2433G>A | |
| ENST00000648433.1:c.2719G>A | ENSP00000496816.1:p.Ala907Thr | |
| ENST00000649426.1:n.597G>A | ||
| ENST00000649554.1:n.2446G>A | ||
| ENST00000649979.2:c.2836G>A MANE Select | ENSP00000497271.1:p.Ala946Thr | |
| ENST00000679938.1:c.2524G>A | ENSP00000505518.1:p.Ala842Thr | |
| ENST00000263642.2:c.2836G>A | ENSP00000263642.2:p.Ala946Thr | |
| NM_022168.3:c.2836G>A | NP_071451.2:p.Ala946Thr | |
| XM_011511628.1:c.2119G>A | XP_011509930.1:p.Ala707Thr | |
| NM_022168.4:c.2836G>A MANE Select | NP_071451.2:p.Ala946Thr |