gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.13924729 (AFR)
Genomes Max Group AF
0.13924729 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.167954842C>T , CM000664.2:g.167954842C>T | GRCh38 |
| NC_000002.11:g.168811352C>T , CM000664.1:g.168811352C>T | GRCh37 |
| NC_000002.10:g.168519598C>T | NCBI36 |
| NG_052783.1:g.297754G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697205.1:c.2229G>A | ENSP00000513185.1:n.2229G>A | |
| ENST00000355999.5:c.*654G>A MANE Select | ENSP00000348278.4:n.*654G>A | |
| ENST00000355999.4:c.*654G>A | ENSP00000348278.4:n.*654G>A | |
| ENST00000487143.5:n.1392G>A | ||
| NM_013233.2:c.*654G>A | NP_037365.2:n.*654G>A | |
| XM_005246465.2:c.*654G>A | XP_005246522.1:n.*654G>A | |
| XM_011510966.1:c.*654G>A | XP_011509268.1:n.*654G>A | |
| XM_011510967.1:c.*654G>A | XP_011509269.1:n.*654G>A | |
| NM_013233.3:c.*654G>A MANE Select | NP_037365.2:n.*654G>A |