COSMIC:
COSM3761887 (not active)
Revel Score:
ENST00000454783
0.025
ENST00000418386 (MANE Select)
0.025
ENST00000436827
0.025
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50038028 (AFR)
Genomes Max Group AF
0.49606744 (AFR)
Exomes Max Group AF
0.50176517 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31573007C>A , CM000668.2:g.31573007C>A | GRCh38 |
| NC_000006.11:g.31540784C>A , CM000668.1:g.31540784C>A | GRCh37 |
| NC_000006.10:g.31648763C>A | NCBI36 |
| NG_007462.1:g.2435C>A | |
| NG_012010.1:g.5909C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418386.3:c.179C>A MANE Select | ENSP00000413450.2:p.Thr60Asn | |
| ENST00000418386.2:c.179C>A | ENSP00000413450.2:p.Thr60Asn | |
| ENST00000454783.5:c.179C>A | ENSP00000403495.1:p.Thr60Asn | |
| ENST00000471842.1:n.427C>A | ||
| ENST00000489638.5:n.307C>A | ||
| NM_000595.3:c.179C>A | NP_000586.2:p.Thr60Asn | |
| NM_001159740.2:c.179C>A | NP_001153212.1:p.Thr60Asn | |
| XM_011514614.1:c.179C>A | XP_011512916.1:p.Thr60Asn | |
| XM_011514615.1:c.179C>A | XP_011512917.1:p.Thr60Asn | |
| XM_011514616.1:c.179C>A | XP_011512918.1:p.Thr60Asn | |
| XM_011514617.1:c.179C>A | XP_011512919.1:p.Thr60Asn | |
| XM_011514618.1:c.179C>A | XP_011512920.1:p.Thr60Asn | |
| XM_011514615.2:c.179C>A | XP_011512917.1:p.Thr60Asn | |
| XM_011514616.2:c.179C>A | XP_011512918.1:p.Thr60Asn | |
| XM_011514617.2:c.179C>A | XP_011512919.1:p.Thr60Asn | |
| NM_000595.4:c.179C>A MANE Select | NP_000586.2:p.Thr60Asn |