ClinVar Variation:
COSMIC:
COSM6232219
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.87696522 (AFR)
Genomes Max Group AF
0.86734169 (AFR)
Exomes Max Group AF
0.88369998 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3589138A>G , CM000678.2:g.3589138A>G | GRCh38 |
| NC_000016.9:g.3639139A>G , CM000678.1:g.3639139A>G | GRCh37 |
| NC_000016.8:g.3579140A>G | NCBI36 |
| NG_028123.1:g.27447T>C , LRG_503:g.27447T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294008.4:c.4500T>C MANE Select | ENSP00000294008.3:p.Asn1500= | |
| ENST00000294008.3:c.4500T>C | ENSP00000294008.3:p.Asn1500= | |
| NM_032444.2:c.4500T>C , LRG_503t1:c.4500T>C | NP_115820.2:p.Asn1500= | |
| XM_011522715.1:c.4500T>C | XP_011521017.1:p.Asn1500= | |
| NM_032444.3:c.4500T>C | NP_115820.2:p.Asn1500= | |
| XM_011522715.3:c.4500T>C | XP_011521017.1:p.Asn1500= | |
| XM_017023775.2:c.3678T>C | XP_016879264.1:p.Asn1226= | |
| XM_024450471.1:c.4500T>C | XP_024306239.1:p.Asn1500= | |
| NM_032444.4:c.4500T>C MANE Select | NP_115820.2:p.Asn1500= |