gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001923 (AFR)
Genomes Max Group AF
0.00001923 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.21963302C>T , CM000670.2:g.21963302C>T | GRCh38 |
| NC_000008.10:g.21820813C>T , CM000670.1:g.21820813C>T | GRCh37 |
| NC_000008.9:g.21876759C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252512.14:c.19-3555C>T MANE Select | ENSP00000252512.9:n.19-3555C>T | |
| ENST00000252512.13:c.19-3555C>T | ENSP00000252512.9:n.19-3555C>T | |
| ENST00000518017.1:n.214-3555C>T | ||
| ENST00000519769.5:n.30-3555C>T | ||
| ENST00000520754.1:n.172-847C>T | ||
| ENST00000521303.5:c.33-3555C>T | ||
| NM_015024.4:c.19-3555C>T | NP_055839.3:n.19-3555C>T | |
| NM_001100161.1:c.19-3555C>T | NP_001093631.1:n.19-3555C>T | |
| NM_001362802.1:c.19-3555C>T | NP_001349731.1:n.19-3555C>T | |
| NR_156173.1:n.121-3555C>T | ||
| XM_024447108.1:c.27+2908C>T | XP_024302876.1:n.27+2908C>T | |
| XM_024447109.1:c.27+2908C>T | XP_024302877.1:n.27+2908C>T | |
| XM_024447110.1:c.27+2908C>T | XP_024302878.1:n.27+2908C>T | |
| XR_002956623.1:n.1266+2908C>T | ||
| XR_002956624.1:n.42+2908C>T | ||
| NM_015024.5:c.19-3555C>T MANE Select | NP_055839.3:n.19-3555C>T | |
| NM_001100161.2:c.19-3555C>T | NP_001093631.1:n.19-3555C>T | |
| NM_001362802.2:c.19-3555C>T | NP_001349731.1:n.19-3555C>T | |
| NR_156173.2:n.128-3555C>T |