gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02530249 (EAS)
Genomes Max Group AF
0.02530249 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42230666C>T , CM000683.2:g.42230666C>T | GRCh38 |
| NC_000021.8:g.43650776C>T , CM000683.1:g.43650776C>T | GRCh37 |
| NC_000021.7:g.42523845C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398449.8:c.286+4752C>T MANE Select | ENSP00000381467.3:n.286+4752C>T | |
| ENST00000343687.7:c.319+4752C>T | ENSP00000339744.3:n.319+4752C>T | |
| ENST00000347800.6:c.277+4752C>T | ENSP00000291524.4:n.277+4752C>T | |
| ENST00000361802.6:c.286+4752C>T | ENSP00000354995.2:n.286+4752C>T | |
| ENST00000398449.7:c.286+4752C>T | ENSP00000381467.3:n.286+4752C>T | |
| ENST00000398457.6:c.292+4752C>T | ENSP00000381475.2:n.292+4752C>T | |
| ENST00000450121.5:c.286+4752C>T | ENSP00000414541.1:n.286+4752C>T | |
| ENST00000462050.5:n.470+4752C>T | ||
| NM_004915.3:c.286+4752C>T | NP_004906.3:n.286+4752C>T | |
| NM_016818.2:c.286+4752C>T | NP_058198.2:n.286+4752C>T | |
| NM_207174.1:c.319+4752C>T | NP_997057.1:n.319+4752C>T | |
| NM_207627.1:c.292+4752C>T | NP_997510.1:n.292+4752C>T | |
| NM_207628.1:c.220+4752C>T | NP_997511.1:n.220+4752C>T | |
| NM_207629.1:c.277+4752C>T | NP_997512.1:n.277+4752C>T | |
| XM_011529806.1:c.319+4752C>T | XP_011528108.1:n.319+4752C>T | |
| XM_011529807.1:c.319+4752C>T | XP_011528109.1:n.319+4752C>T | |
| XM_011529807.3:c.319+4752C>T | XP_011528109.1:n.319+4752C>T | |
| NM_004915.4:c.286+4752C>T | NP_004906.3:n.286+4752C>T | |
| NM_016818.3:c.286+4752C>T MANE Select | NP_058198.2:n.286+4752C>T | |
| NM_207627.2:c.292+4752C>T | NP_997510.1:n.292+4752C>T | |
| NM_207629.2:c.277+4752C>T | NP_997512.1:n.277+4752C>T |