gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.56588504 (NFE)
Genomes Max Group AF
0.56588504 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.164581720G>A , CM000664.2:g.164581720G>A | GRCh38 |
| NC_000002.11:g.165438230G>A , CM000664.1:g.165438230G>A | GRCh37 |
| NC_000002.10:g.165146476G>A | NCBI36 |
| NG_052839.1:g.45131C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263915.8:c.325-33904C>T MANE Select | ENSP00000263915.3:n.325-33904C>T | |
| ENST00000263915.7:c.325-33904C>T | ENSP00000263915.3:n.325-33904C>T | |
| ENST00000424693.1:c.151-33904C>T | ENSP00000401702.1:n.151-33904C>T | |
| ENST00000446413.6:c.190-33904C>T | ENSP00000416786.2:n.190-33904C>T | |
| ENST00000488342.5:n.408-33904C>T | ||
| NM_004490.2:c.325-33904C>T | NP_004481.2:n.325-33904C>T | |
| XM_011511022.1:c.325-33904C>T | XP_011509324.1:n.325-33904C>T | |
| XR_427085.2:n.494-33904C>T | ||
| XM_011511022.2:c.325-33904C>T | XP_011509324.1:n.325-33904C>T | |
| XM_024452815.1:c.103-33904C>T | XP_024308583.1:n.103-33904C>T | |
| XM_024452816.1:c.103-33904C>T | XP_024308584.1:n.103-33904C>T | |
| XR_427085.3:n.498-33904C>T | ||
| NM_004490.3:c.325-33904C>T MANE Select | NP_004481.2:n.325-33904C>T |