ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00028874 (NFE)
Genomes Max Group AF
0.00012859 (AMR)
Exomes Max Group AF
0.00029935 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63951714T>C , CM000679.2:g.63951714T>C | GRCh38 |
| NC_000017.10:g.62029074T>C , CM000679.1:g.62029074T>C | GRCh37 |
| NC_000017.9:g.59382806T>C | NCBI36 |
| NG_011699.1:g.26205A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.2563A>G MANE Select | ENSP00000396320.1:p.Met855Val | |
| ENST00000578147.5:c.2563A>G | ENSP00000463963.1:p.Met855Val | |
| NM_000334.4:c.2563A>G MANE Select | NP_000325.4:p.Met855Val | |
| XM_005257566.3:c.2563A>G | XP_005257623.1:p.Met855Val |