gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.93985557 (AFR)
Genomes Max Group AF
0.93985557 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.238147187G>T , CM000664.2:g.238147187G>T | GRCh38 |
| NC_000002.11:g.239055828G>T , CM000664.1:g.239055828G>T | GRCh37 |
| NC_000002.10:g.238720567G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409223.2:c.1151-647G>T MANE Select | ENSP00000386389.1:n.1151-647G>T | |
| ENST00000409223.1:c.1151-647G>T | ENSP00000386389.1:n.1151-647G>T | |
| NM_198582.3:c.1151-647G>T | NP_940984.3:n.1151-647G>T | |
| NM_198582.4:c.1151-647G>T MANE Select | NP_940984.3:n.1151-647G>T |