gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.90479809 (AFR)
Genomes Max Group AF
0.90479809 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.26485765T>C , CM000672.2:g.26485765T>C | GRCh38 |
| NC_000010.10:g.26774694T>C , CM000672.1:g.26774694T>C | GRCh37 |
| NC_000010.9:g.26814700T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376236.9:c.1-6562T>C MANE Select | ENSP00000365411.4:n.1-6562T>C | |
| ENST00000356785.4:c.1-6562T>C | ENSP00000349237.4:n.1-6562T>C | |
| ENST00000376236.8:c.1-6562T>C | ENSP00000365411.4:n.1-6562T>C | |
| NM_019043.3:c.1-6562T>C | NP_061916.3:n.1-6562T>C | |
| XM_011519514.1:c.1-6562T>C | XP_011517816.1:n.1-6562T>C | |
| XM_011519514.2:c.1-6562T>C | XP_011517816.1:n.1-6562T>C | |
| NM_019043.4:c.1-6562T>C MANE Select | NP_061916.3:n.1-6562T>C |