gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.2120632 (AMR)
Genomes Max Group AF
0.14533313 (AMR)
Exomes Max Group AF
0.23350134 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.6021545G>A , CM000672.2:g.6021545G>A | GRCh38 |
| NC_000010.10:g.6063508G>A , CM000672.1:g.6063508G>A | GRCh37 |
| NC_000010.9:g.6103514G>A | NCBI36 |
| NG_007403.1:g.45765C>T , LRG_73:g.45765C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447847.2:c.368-2046C>T | ENSP00000402024.2:n.368-2046C>T | |
| ENST00000697424.1:c.516C>T | ENSP00000513307.1:p.His172= | |
| ENST00000379959.8:c.516C>T MANE Select | ENSP00000369293.3:p.His172= | |
| ENST00000256876.10:c.516C>T | ENSP00000256876.6:p.His172= | |
| ENST00000379954.5:c.368-1604C>T | ENSP00000369287.1:n.368-1604C>T | |
| ENST00000379959.7:c.516C>T | ENSP00000369293.3:p.His172= | |
| ENST00000447847.1:c.280-2046C>T | ||
| NM_000417.2:c.516C>T , LRG_73t1:c.516C>T | NP_000408.1:p.His172= | |
| NM_001308242.1:c.368-1604C>T | NP_001295171.1:n.368-1604C>T | |
| NM_001308243.1:c.368-2046C>T | NP_001295172.1:n.368-2046C>T | |
| NM_000417.3:c.516C>T MANE Select | NP_000408.1:p.His172= | |
| NM_001308242.2:c.368-1604C>T | NP_001295171.1:n.368-1604C>T | |
| NM_001308243.2:c.368-2046C>T | NP_001295172.1:n.368-2046C>T |