gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.11557922 (NFE)
Genomes Max Group AF
0.11559276 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.16592300C>T , CM000672.2:g.16592300C>T | GRCh38 |
| NC_000010.10:g.16634299C>T , CM000672.1:g.16634299C>T | GRCh37 |
| NC_000010.9:g.16674305C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345264.10:c.*1094G>A MANE Select | ENSP00000339521.5:n.*1094G>A | |
| ENST00000345264.9:c.*1094G>A | ENSP00000339521.5:n.*1094G>A | |
| ENST00000377921.7:c.*1094G>A | ENSP00000367154.3:n.*1094G>A | |
| ENST00000602389.1:c.*1094G>A | ENSP00000473588.1:n.*1094G>A | |
| NM_012425.3:c.*1094G>A | NP_036557.1:n.*1094G>A | |
| NM_152724.2:c.*1094G>A | NP_689937.2:n.*1094G>A | |
| XM_005252552.4:c.*961G>A | XP_005252609.1:n.*961G>A | |
| NM_012425.4:c.*1094G>A MANE Select | NP_036557.1:n.*1094G>A | |
| NM_152724.3:c.*1094G>A | NP_689937.2:n.*1094G>A |