gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41925135 (AFR)
Genomes Max Group AF
0.41925135 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186671926G>A , CM000663.2:g.186671926G>A | GRCh38 |
| NC_000001.10:g.186641058G>A , CM000663.1:g.186641058G>A | GRCh37 |
| NC_000001.9:g.184907681G>A | NCBI36 |
| NG_028206.2:g.13502C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367468.10:c.*2427C>T MANE Select | ENSP00000356438.5:n.*2427C>T | |
| ENST00000680451.1:c.*2427C>T | ENSP00000506242.1:n.*2427C>T | |
| ENST00000681605.1:c.*3914C>T | ENSP00000504900.1:n.*3914C>T | |
| ENST00000367468.9:c.*2427C>T | ENSP00000356438.5:n.*2427C>T | |
| NM_000963.3:c.*2427C>T | NP_000954.1:n.*2427C>T | |
| NM_000963.4:c.*2427C>T MANE Select | NP_000954.1:n.*2427C>T |