gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.07600594 (AMR)
Genomes Max Group AF
0.07600594 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48345715C>T , CM000675.2:g.48345715C>T | GRCh38 |
| NC_000013.10:g.48919851C>T , CM000675.1:g.48919851C>T | GRCh37 |
| NC_000013.9:g.47817852C>T | NCBI36 |
| NG_009009.1:g.46969C>T , LRG_517:g.46969C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.500+516C>T MANE Select | ENSP00000267163.4:n.500+516C>T | |
| ENST00000650461.1:c.500+516C>T | ENSP00000497193.1:n.500+516C>T | |
| ENST00000267163.4:c.500+516C>T | ENSP00000267163.4:n.500+516C>T | |
| ENST00000467505.5:c.138-14302C>T | ENSP00000434702.1:n.138-14302C>T | |
| ENST00000525036.1:n.662+516C>T | ||
| NM_000321.2:c.500+516C>T , LRG_517t1:c.500+516C>T | NP_000312.2:n.500+516C>T | |
| XM_011535171.1:c.239+516C>T | XP_011533473.1:n.239+516C>T | |
| XM_011535171.2:c.239+516C>T | XP_011533473.1:n.239+516C>T | |
| NM_000321.3:c.500+516C>T MANE Select | NP_000312.2:n.500+516C>T |