ClinVar Variation:
COSMIC:
COSM5359908
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00217494 (AFR)
Genomes Max Group AF
0.0024678 (AFR)
Exomes Max Group AF
0.00156259 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.16835131G>A , CM000672.2:g.16835131G>A | GRCh38 |
| NC_000010.10:g.16877130G>A , CM000672.1:g.16877130G>A | GRCh37 |
| NC_000010.9:g.16917136G>A | NCBI36 |
| NG_008967.1:g.299687C>T , LRG_540:g.299687C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377833.10:c.10245C>T MANE Select | ENSP00000367064.4:p.Tyr3415= | |
| ENST00000377833.8:c.10245C>T | ENSP00000367064.4:p.Tyr3415= | |
| NM_001081.3:c.10245C>T , LRG_540t1:c.10245C>T | NP_001072.2:p.Tyr3415= | |
| XM_011519709.1:c.6231C>T | XP_011518011.1:p.Tyr2077= | |
| XM_011519710.1:c.6207C>T | XP_011518012.1:p.Tyr2069= | |
| XM_011519711.1:c.6087C>T | XP_011518013.1:p.Tyr2029= | |
| XM_011519709.2:c.6231C>T | XP_011518011.1:p.Tyr2077= | |
| XM_011519710.2:c.6207C>T | XP_011518012.1:p.Tyr2069= | |
| XM_011519711.3:c.6087C>T | XP_011518013.1:p.Tyr2029= | |
| NM_001081.4:c.10245C>T MANE Select | NP_001072.2:p.Tyr3415= |