COSMIC:
COSM149290 (not active)
COSM4417124 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.72815312 (AFR)
Genomes Max Group AF
0.72417022 (AFR)
Exomes Max Group AF
0.72835796 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37073551G>A , CM000684.2:g.37073551G>A | GRCh38 |
| NC_000022.10:g.37469591G>A , CM000684.1:g.37469591G>A | GRCh37 |
| NC_000022.9:g.35799537G>A | NCBI36 |
| NG_012856.2:g.41013C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346753.9:c.1536C>T | ENSP00000334962.6:p.Asp512= | |
| ENST00000406725.6:c.1536C>T | ENSP00000385453.1:p.Asp512= | |
| ENST00000406856.7:c.1536C>T | ENSP00000384964.1:p.Asp512= | |
| ENST00000676104.1:c.1536C>T MANE Select | ENSP00000501573.1:p.Asp512= | |
| ENST00000346753.7:c.1563C>T | ENSP00000334962.5:p.Asp521= | |
| ENST00000381792.6:c.1536C>T | ENSP00000371211.2:p.Asp512= | |
| ENST00000406725.5:c.1536C>T | ENSP00000385453.1:p.Asp512= | |
| ENST00000406856.5:c.1536C>T | ENSP00000384964.1:p.Asp512= | |
| NM_001289000.1:c.1536C>T | NP_001275929.1:p.Asp512= | |
| NM_001289001.1:c.1536C>T | NP_001275930.1:p.Asp512= | |
| NM_153609.3:c.1563C>T | NP_705837.1:p.Asp521= | |
| XM_006724162.1:c.1536C>T | XP_006724225.1:p.Asp512= | |
| XM_006724163.2:c.1536C>T | XP_006724226.1:p.Asp512= | |
| XM_011529987.1:c.1536C>T | XP_011528289.1:p.Asp512= | |
| XM_011529988.1:c.1536C>T | XP_011528290.1:p.Asp512= | |
| XM_011529989.1:c.1104C>T | XP_011528291.1:p.Asp368= | |
| XM_011529989.2:c.1104C>T | XP_011528291.1:p.Asp368= | |
| XM_024452167.1:c.1536C>T | XP_024307935.1:p.Asp512= | |
| XM_024452168.1:c.1536C>T | XP_024307936.1:p.Asp512= | |
| XM_024452169.1:c.1536C>T | XP_024307937.1:p.Asp512= | |
| XM_024452170.1:c.1536C>T | XP_024307938.1:p.Asp512= | |
| XM_024452171.1:c.1536C>T | XP_024307939.1:p.Asp512= | |
| NM_001289000.2:c.1536C>T | NP_001275929.1:p.Asp512= | |
| NM_001289001.2:c.1536C>T | NP_001275930.1:p.Asp512= | |
| NM_001374504.1:c.1536C>T MANE Select | NP_001361433.1:p.Asp512= | |
| NM_153609.4:c.1536C>T | NP_705837.2:p.Asp512= |