gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41480312 (MID)
Genomes Max Group AF
0.38069867 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.121134106C>T , CM000669.2:g.121134106C>T | GRCh38 |
| NC_000007.13:g.120774160C>T , CM000669.1:g.120774160C>T | GRCh37 |
| NC_000007.12:g.120561396C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310396.10:c.1648+213C>T MANE Select | ENSP00000309772.5:n.1648+213C>T | |
| ENST00000310396.9:c.1648+213C>T | ENSP00000309772.5:n.1648+213C>T | |
| ENST00000423795.5:c.988+213C>T | ENSP00000415573.1:n.988+213C>T | |
| ENST00000443817.1:c.988+213C>T | ENSP00000391952.1:n.988+213C>T | |
| ENST00000450913.6:c.1648+213C>T | ENSP00000406122.2:n.1648+213C>T | |
| NM_001105533.1:c.1648+213C>T | NP_001099003.1:n.1648+213C>T | |
| NM_024913.4:c.1648+213C>T | NP_079189.4:n.1648+213C>T | |
| XM_011516583.1:c.1648+213C>T | XP_011514885.1:n.1648+213C>T | |
| XM_017012649.2:c.1648+213C>T | XP_016868138.1:n.1648+213C>T | |
| XM_024446941.1:c.1135+213C>T | XP_024302709.1:n.1135+213C>T | |
| NM_024913.5:c.1648+213C>T MANE Select | NP_079189.4:n.1648+213C>T |