gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00043016 (MID)
Genomes Max Group AF
0.00007299 (SAS)
Exomes Max Group AF
0.00045291 (MID)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19973647G>A , CM000664.2:g.19973647G>A | GRCh38 |
| NC_000002.11:g.20173408G>A , CM000664.1:g.20173408G>A | GRCh37 |
| NC_000002.10:g.20036889G>A | NCBI36 |
| NG_021212.1:g.21477C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281405.9:c.798C>T MANE Select | ENSP00000281405.5:p.Ser266= | |
| ENST00000345530.8:c.798C>T MANE Plus Clinical | ENSP00000314444.5:p.Ser266= | |
| ENST00000281405.8:c.798C>T | ENSP00000281405.4:p.Ser266= | |
| ENST00000345530.7:c.798C>T | ENSP00000314444.5:p.Ser266= | |
| ENST00000414212.5:c.798C>T | ENSP00000390802.1:p.Ser266= | |
| ENST00000445063.5:c.335C>T | ||
| NM_001006657.1:c.798C>T | NP_001006658.1:p.Ser266= | |
| NM_020779.3:c.798C>T | NP_065830.2:p.Ser266= | |
| XR_426989.2:n.831C>T | ||
| XR_939699.1:n.831C>T | ||
| XR_001738862.1:n.831C>T | ||
| XR_426989.3:n.831C>T | ||
| XR_939699.3:n.831C>T | ||
| NM_001006657.2:c.798C>T MANE Plus Clinical | NP_001006658.1:p.Ser266= | |
| NM_020779.4:c.798C>T MANE Select | NP_065830.2:p.Ser266= |