gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.66998587 (NFE)
Genomes Max Group AF
0.66998587 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58520000C>T , CM000677.2:g.58520000C>T | GRCh38 |
| NC_000015.9:g.58812199C>T , CM000677.1:g.58812199C>T | GRCh37 |
| NC_000015.8:g.56599491C>T | NCBI36 |
| NG_011465.1:g.93025C>T | |
| NG_011465.2:g.93025C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299022.10:c.89-18333C>T MANE Select | ENSP00000299022.5:n.89-18333C>T | |
| ENST00000299022.9:c.89-18333C>T | ENSP00000299022.5:n.89-18333C>T | |
| ENST00000356113.10:c.89-18333C>T | ENSP00000348425.6:n.89-18333C>T | |
| ENST00000414170.7:c.89-18333C>T | ENSP00000395569.3:n.89-18333C>T | |
| ENST00000433326.2:c.89-18333C>T | ENSP00000395002.2:n.89-18333C>T | |
| ENST00000559845.5:n.131-21785C>T | ||
| NM_000236.2:c.89-18333C>T | NP_000227.2:n.89-18333C>T | |
| XM_005254372.1:c.89-18333C>T | XP_005254429.1:n.89-18333C>T | |
| XM_011521551.1:c.89-18333C>T | XP_011519853.1:n.89-18333C>T | |
| XM_024449916.1:c.89-18333C>T | XP_024305684.1:n.89-18333C>T | |
| XM_024449917.1:c.89-18333C>T | XP_024305685.1:n.89-18333C>T | |
| NM_000236.3:c.89-18333C>T MANE Select | NP_000227.2:n.89-18333C>T |