gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.98223131 (NFE)
Genomes Max Group AF
0.98223131 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.71261172C>T , CM000666.2:g.71261172C>T | GRCh38 |
| NC_000004.11:g.72126889C>T , CM000666.1:g.72126889C>T | GRCh37 |
| NC_000004.10:g.72345753C>T | NCBI36 |
| NG_012653.1:g.78887C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698522.1:c.253+5773C>T | ENSP00000513771.1:n.253+5773C>T | |
| ENST00000264485.11:c.253+5773C>T MANE Select | ENSP00000264485.5:n.253+5773C>T | |
| ENST00000638464.1:c.346+5773C>T | ENSP00000492496.1:n.346+5773C>T | |
| ENST00000639096.1:c.358+5773C>T | ENSP00000491107.1:n.358+5773C>T | |
| ENST00000649996.1:c.253+5773C>T | ENSP00000497468.1:n.253+5773C>T | |
| ENST00000264485.9:c.253+5773C>T | ENSP00000264485.5:n.253+5773C>T | |
| ENST00000351898.10:c.253+5773C>T | ENSP00000307349.7:n.253+5773C>T | |
| ENST00000425175.5:c.253+5773C>T | ENSP00000393557.1:n.253+5773C>T | |
| ENST00000514331.1:n.182+5773C>T | ||
| NM_001098484.2:c.253+5773C>T | NP_001091954.1:n.253+5773C>T | |
| NM_001134742.1:c.253+5773C>T | NP_001128214.1:n.253+5773C>T | |
| XM_024454267.1:c.346+5773C>T | XP_024310035.1:n.346+5773C>T | |
| XM_024454268.1:c.268+5773C>T | XP_024310036.1:n.268+5773C>T | |
| XM_024454269.1:c.268+5773C>T | XP_024310037.1:n.268+5773C>T | |
| XM_024454270.1:c.253+5773C>T | XP_024310038.1:n.253+5773C>T | |
| XM_024454271.1:c.253+5773C>T | XP_024310039.1:n.253+5773C>T | |
| XM_024454272.1:c.253+5773C>T | XP_024310040.1:n.253+5773C>T | |
| NM_001098484.3:c.253+5773C>T MANE Select | NP_001091954.1:n.253+5773C>T | |
| NM_001134742.2:c.253+5773C>T | NP_001128214.1:n.253+5773C>T |