dbSNP:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000974 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000469 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206770368G>A , CM000663.2:g.206770368G>A | GRCh38 |
| NC_000001.10:g.206943713G>A , CM000663.1:g.206943713G>A | GRCh37 |
| NC_000001.9:g.205010336G>A | NCBI36 |
| NG_012088.1:g.7127C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367099.4:n.284-474C>T | ||
| ENST00000471071.2:c.124-474C>T | ENSP00000493073.2:n.124-474C>T | |
| ENST00000640756.2:n.188+31C>T | ||
| ENST00000659065.2:c.262-474C>T | ENSP00000499588.1:n.262-474C>T | |
| ENST00000659642.2:c.262-474C>T | ENSP00000499509.1:n.262-474C>T | |
| ENST00000664374.2:c.262-474C>T | ENSP00000499664.1:n.262-474C>T | |
| ENST00000640756.1:n.177+31C>T | ||
| ENST00000659065.1:c.262-474C>T | ENSP00000499588.1:n.262-474C>T | |
| ENST00000659642.1:c.262-474C>T | ENSP00000499509.1:n.262-474C>T | |
| ENST00000664374.1:c.262-474C>T | ENSP00000499664.1:n.262-474C>T | |
| ENST00000367099.3:n.284-474C>T | ||
| ENST00000423557.1:c.379-474C>T MANE Select | ENSP00000412237.1:n.379-474C>T | |
| ENST00000471071.1:n.294-474C>T | ||
| NM_000572.2:c.379-474C>T | NP_000563.1:n.379-474C>T | |
| XM_011509506.1:c.379-474C>T | XP_011507808.1:n.379-474C>T | |
| NM_000572.3:c.379-474C>T MANE Select | NP_000563.1:n.379-474C>T | |
| NM_001382624.1:c.124-474C>T | NP_001369553.1:n.124-474C>T | |
| NR_168466.1:n.438-49C>T | ||
| NR_168467.1:n.205+31C>T |