gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.26687753 (EAS)
Genomes Max Group AF
0.26687753 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103086421T>C , CM000672.2:g.103086421T>C | GRCh38 |
| NC_000010.10:g.104846178T>C , CM000672.1:g.104846178T>C | GRCh37 |
| NC_000010.9:g.104836168T>C | NCBI36 |
| NG_042272.1:g.111886A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369878.9:c.*9241T>C MANE Select | ENSP00000358894.3:n.*9241T>C | |
| ENST00000369878.8:c.*9241T>C | ENSP00000358894.3:n.*9241T>C | |
| XR_001747118.1:n.12122T>C | ||
| XR_001747121.1:n.12086T>C | ||
| NM_017649.5:c.*9241T>C MANE Select | NP_060119.3:n.*9241T>C | |
| NM_199076.3:c.*9241T>C | NP_951058.1:n.*9241T>C |