gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0962539 (AFR)
Genomes Max Group AF
0.0962539 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.146438846T>C , CM000669.2:g.146438846T>C | GRCh38 |
| NC_000007.13:g.146135938T>C , CM000669.1:g.146135938T>C | GRCh37 |
| NC_000007.12:g.145766871T>C | NCBI36 |
| NG_007092.2:g.327486T>C | |
| NG_007092.3:g.327846T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.97+321873T>C MANE Select | ENSP00000354778.3:n.97+321873T>C | |
| ENST00000637150.1:n.26+321873T>C | ||
| ENST00000361727.7:c.97+321873T>C | ENSP00000354778.3:n.97+321873T>C | |
| ENST00000625365.2:c.97+321873T>C | ENSP00000485955.1:n.97+321873T>C | |
| NM_014141.5:c.97+321873T>C | NP_054860.1:n.97+321873T>C | |
| XM_017011950.2:c.97+321873T>C | XP_016867439.1:n.97+321873T>C | |
| NM_014141.6:c.97+321873T>C MANE Select | NP_054860.1:n.97+321873T>C |