gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15145672 (SAS)
Genomes Max Group AF
0.15145672 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.63146696C>A , CM000674.2:g.63146696C>A | GRCh38 |
| NC_000012.11:g.63540476C>A , CM000674.1:g.63540476C>A | GRCh37 |
| NC_000012.10:g.61826743C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299178.4:c.*663G>T MANE Select | ENSP00000299178.3:n.*663G>T | |
| ENST00000299178.3:c.*663G>T | ENSP00000299178.2:n.*663G>T | |
| ENST00000550940.1:c.538+725G>T | ENSP00000449822.1:n.538+725G>T | |
| NM_000706.4:c.*663G>T | NP_000697.1:n.*663G>T | |
| XM_005269002.3:c.*663G>T | XP_005269059.1:n.*663G>T | |
| NM_000706.5:c.*663G>T MANE Select | NP_000697.1:n.*663G>T |