gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30363912 (NFE)
Genomes Max Group AF
0.30363912 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.84651903A>T , CM000678.2:g.84651903A>T | GRCh38 |
| NC_000016.9:g.84685509A>T , CM000678.1:g.84685509A>T | GRCh37 |
| NC_000016.8:g.83243010A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000564996.6:c.63+973A>T MANE Select | ENSP00000456743.1:n.63+973A>T | |
| ENST00000258157.9:c.63+973A>T | ENSP00000258157.5:n.63+973A>T | |
| ENST00000564996.5:c.63+973A>T | ENSP00000456743.1:n.63+973A>T | |
| ENST00000565743.1:c.63+973A>T | ENSP00000455966.1:n.63+973A>T | |
| ENST00000567410.5:c.63+973A>T | ENSP00000455244.1:n.63+973A>T | |
| ENST00000569472.5:c.63+973A>T | ENSP00000455746.1:n.63+973A>T | |
| NM_001303451.1:c.63+973A>T | NP_001290380.1:n.63+973A>T | |
| NM_024731.3:c.63+973A>T | NP_079007.2:n.63+973A>T | |
| XM_005256149.1:c.63+973A>T | XP_005256206.1:n.63+973A>T | |
| XR_243425.3:n.71+973A>T | ||
| XR_933433.1:n.71+973A>T | ||
| XM_005256149.2:c.63+973A>T | XP_005256206.1:n.63+973A>T | |
| XR_001751986.2:n.212+973A>T | ||
| XR_933433.3:n.218+973A>T | ||
| NM_024731.4:c.63+973A>T MANE Select | NP_079007.2:n.63+973A>T | |
| NM_001303451.2:c.63+973A>T | NP_001290380.1:n.63+973A>T |