COSMIC:
COSM4129006 (not active)
Revel Score:
ENST00000297679 (MANE Select)
0.076
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.90208389 (EAS)
Genomes Max Group AF
0.8840603 (EAS)
Exomes Max Group AF
0.90210475 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30987821A>G , CM000678.2:g.30987821A>G | GRCh38 |
| NC_000016.9:g.30999142A>G , CM000678.1:g.30999142A>G | GRCh37 |
| NC_000016.8:g.30906643A>G | NCBI36 |
| NG_012346.1:g.7624A>G | |
| NG_041829.1:g.27688T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297679.10:c.748A>G MANE Select | ENSP00000297679.5:p.Thr250Ala | |
| ENST00000262520.10:c.585A>G | ENSP00000262520.6:p.Gln195= | |
| ENST00000297679.9:c.748A>G | ENSP00000297679.5:p.Thr250Ala | |
| NM_001142777.1:c.585A>G | NP_001136249.1:p.Gln195= | |
| NM_001142778.1:c.585A>G | NP_001136250.1:p.Gln195= | |
| NM_025193.3:c.748A>G | NP_079469.2:p.Thr250Ala | |
| XM_005255601.3:c.748A>G | XP_005255658.2:p.Thr250Ala | |
| XM_011545960.1:c.748A>G | XP_011544262.1:p.Thr250Ala | |
| XM_011545961.1:c.748A>G | XP_011544263.1:p.Thr250Ala | |
| XM_011545962.1:c.585A>G | XP_011544264.1:p.Gln195= | |
| XM_011545960.2:c.748A>G | XP_011544262.1:p.Thr250Ala | |
| XM_011545962.2:c.585A>G | XP_011544264.1:p.Gln195= | |
| XM_017023732.1:c.585A>G | XP_016879221.1:p.Gln195= | |
| NM_025193.4:c.748A>G MANE Select | NP_079469.2:p.Thr250Ala | |
| NM_001142777.2:c.585A>G | NP_001136249.1:p.Gln195= | |
| NM_001142778.2:c.585A>G | NP_001136250.1:p.Gln195= |