gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15458277 (NFE)
Genomes Max Group AF
0.15420388 (NFE)
Exomes Max Group AF
0.15407494 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206770623C>A , CM000663.2:g.206770623C>A | GRCh38 |
| NC_000001.10:g.206943968C>A , CM000663.1:g.206943968C>A | GRCh37 |
| NC_000001.9:g.205010591C>A | NCBI36 |
| NG_012088.1:g.6872G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367099.4:n.283+284G>T | ||
| ENST00000471071.2:c.123+284G>T | ENSP00000493073.2:n.123+284G>T | |
| ENST00000659065.2:c.261+284G>T | ENSP00000499588.1:n.261+284G>T | |
| ENST00000659642.2:c.261+284G>T | ENSP00000499509.1:n.261+284G>T | |
| ENST00000664374.2:c.261+284G>T | ENSP00000499664.1:n.261+284G>T | |
| ENST00000659065.1:c.261+284G>T | ENSP00000499588.1:n.261+284G>T | |
| ENST00000659642.1:c.261+284G>T | ENSP00000499509.1:n.261+284G>T | |
| ENST00000664374.1:c.261+284G>T | ENSP00000499664.1:n.261+284G>T | |
| ENST00000367099.3:n.283+284G>T | ||
| ENST00000423557.1:c.378+284G>T MANE Select | ENSP00000412237.1:n.378+284G>T | |
| ENST00000471071.1:n.293+284G>T | ||
| NM_000572.2:c.378+284G>T | NP_000563.1:n.378+284G>T | |
| XM_011509506.1:c.378+284G>T | XP_011507808.1:n.378+284G>T | |
| NM_000572.3:c.378+284G>T MANE Select | NP_000563.1:n.378+284G>T | |
| NM_001382624.1:c.123+284G>T | NP_001369553.1:n.123+284G>T | |
| NR_168466.1:n.437+284G>T |