gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.53927517 (NFE)
Genomes Max Group AF
0.53927517 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.25348294C>T , CM000663.2:g.25348294C>T | GRCh38 |
| NC_000001.10:g.25674785C>T , CM000663.1:g.25674785C>T | GRCh37 |
| NC_000001.9:g.25547372C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374358.5:c.207-3332C>T MANE Select | ENSP00000363478.4:n.207-3332C>T | |
| ENST00000374358.4:c.207-3332C>T | ENSP00000363478.4:n.207-3332C>T | |
| ENST00000468704.1:n.578-3332C>T | ||
| ENST00000480937.5:n.354-3332C>T | ||
| ENST00000487234.1:n.483-3332C>T | ||
| ENST00000491936.5:n.138-3332C>T | ||
| ENST00000498135.5:n.247-3332C>T | ||
| NM_014313.3:c.207-3332C>T | NP_055128.1:n.207-3332C>T | |
| XM_005245817.1:c.207-3332C>T | XP_005245874.1:n.207-3332C>T | |
| XM_011541159.1:c.207-3332C>T | XP_011539461.1:n.207-3332C>T | |
| XM_011541159.2:c.207-3332C>T | XP_011539461.1:n.207-3332C>T | |
| NM_014313.4:c.207-3332C>T MANE Select | NP_055128.1:n.207-3332C>T |